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PAH Gene

protein-coding GIFtS: 66

GC12M100292

phenylalanine hydroxylase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
phenylalanine hydroxylase¹ ²		phenylalanine-4-hydroxylase²
PH¹ ²		phenylalanine 4-monooxygenase²
PKU1² ⁵		EC 1.14.16.1³
PKU²		Phe-4-monooxygenase³
phe-4-monooxygenase²

External Ids:	HGNC: 8582¹	Entrez Gene: 5053²	Ensembl: ENSG00000171759⁷	UniProtKB: P00439³

Export aliases for PAH gene to outside databases

Previous GC identifers: GC12M102330 GC12M103190 GC12M101735 GC12M101736 GC12M101737

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PAH:

PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency

of this enzyme activity results in the autosomal recessive disorder phenylketonuria. (provided by RefSeq)

Gene Wiki entry for PAH (Phenylalanine hydroxylase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PAH gene promoter:
         GR-alpha   AP-1   PPAR-gamma2   PPAR-gamma1   c-Jun   c-Fos   AhR   NRSF form 2   NRSF form 1   GR-beta
         Other transcription factors

Search SABiosciences Chromatin IP Primers for PAH

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q22-q24.2 Ensembl cytogenetic band: 12q23.2 HGNC cytogenetic band: 12q22-q24.2

PAH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PAH gene location

GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M100292: view genomic region (about GC identifiers)

Start:	100,291,597 bp from pter
End:	100,370,682 bp from pter
Size:	79,086 bases
Orientation:	minus strand

1 alternative location:

Chr12- 103,232,104-103,311,381

RefSeq DNA sequence:

NC_000012.11 NT_029419.12

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439 (See protein sequence)

Recommended Name: Phenylalanine-4-hydroxylase

Size: 452 amino acids; 51862 Da

Cofactor: Fe(2+) ion

Subunit: Homodimer and homotetramer

PDB structures from and Proteopedia :

1DMW (3D)

1J8T (3D)

1J8U (3D)

1KW0 (3D)

1LRM (3D)

1MMK (3D)

1MMT (3D)

1PAH (3D)

1TDW (3D)

1TG2 (3D)

2PAH (3D)

3PAH (3D)

4PAH (3D)

5PAH (3D)

6PAH (3D)

Secondary accessions: Q16717 Q8TC14

Explore the universe of human proteins at neXtProt for PAH: NX_P00439

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000268.1

ENSEMBL proteins:

ENSP00000303500 ENSP00000408645

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: PAH OriGene Protein Over-expression Lysate: PAH
	GenScript Custom Purified and Recombinant Proteins Services for PAH
	Novus Biologicals Protein for PAH
	Novus Biologicals Lysate for PAH
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

1 Gene Ontology (GO) cellular component term (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

About this table

PAH for ontologies About GeneDecksing

Antibodies for PAH:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for PAH
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for PAH
	Novus Biologicals Antibodies for PAH
	Browse antibodies at Epitomics

Assays for PAH:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PAH
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PAH

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PAH for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR019774 Aromatic-AA_hydroxylase_C

IPR019773 Tyrosine_3-monooxygenase-like

IPR001273 ArAA_hydroxylase

IPR018301 ArAA_hydroxylase_Fe/CU_BS

IPR005961 Phe-4-hydroxylase_tetra

Graphical View of Domain Structure for InterPro Entry P00439

ProtoNet protein and cluster: P00439

2 Blocks protein families:

IPB001273 Aromatic amino acid hydroxylase

IPB002912 Amino acid-binding ACT

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Similarity: Belongs to the biopterin-dependent aromatic amino acid hydroxylase family

Similarity: Contains 1 ACT domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Catalytic activity: L-phenylalanine + tetrahydrobiopterin + O(2) = L-tyrosine + 4a-hydroxytetrahydrobiopterin

Enzyme regulation: N-terminal region of PAH is thought to contain allosteric binding sites for phenylalanine and to

constitute an "inhibitory" domain that regulates the activity of a catalytic domain in the C-terminal portion of the

molecule

Biophysicochemical properties: Kinetic parameters: KM=150 uM for L-Phe with BH(4) as cofactor; KM=30 uM for BH(4);

Vmax=3640 nmol/min/mg enzyme with BH(4) as cofactor (preincubated with L-Phe); Vmax=1230 nmol/min/mg enzyme with BH(4)

as cofactor (preincubated with BH(4)); Temperature dependence: Optimum temperature is 50 degrees Celsius;

Enzyme Number (IUBMB): EC 1.14.16.1

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PAH Sigma-Aldrich shRNA for PAH
		OriGene 29mer shRNA kits in GFP-retroviral vector: PAH OriGene shRNA RFP: PAH OriGene basic RS shRNA: PAH OriGene siRNA: PAH
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PAH

miRNA:		Sigma-Aldrich microRNA Mimics for PAH Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PAH
		Search SABiosciences for Assays for microRNAs that regulate PAH

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: PAH OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PAH OriGene untagged cDNA clones in CMV expression vector: PAH OriGene 3'-UTR clone: PAH Browse MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: PAH
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for PAH

Genatlas biochemistry entry for PAH:

phenylalanine hydroxylase,iron containing enzyme

5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004497	monooxygenase activity	--	--
GO:0004505	phenylalanine 4-monooxygenase activity	TAS	--
GO:0005506	iron ion binding	IEA	--
GO:0016597	amino acid binding	IEA	--
GO:0016714	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	--	--

About this table

PAH for ontologies About GeneDecksing

Animal Models: 10 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Pah):

behavior/neurological	craniofacial	growth/size	homeostasis/metabolism	nervous system
pigmentation	renal/urinary system	reproductive system	skin/coat/nails	vision/eye

PAH for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

PAH for pathways About GeneDecksing

1 Millipore Pathway for PAH

Tyrosine metabolism p.1 (dopamine)

1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for PAH

Phenylalanine, Tyrosine and Tryptophan Biosynthesis

3 Kegg Pathways (Kegg details for PAH):

	hsa00360 Phenylalanine metabolism
	hsa00400 Phenylalanine, tyrosine and tryptophan biosynthesis
	hsa01100 Metabolic pathways

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 1/6

    SABiosciences Custom Pathway-Focused PCR Arrays for PAH

  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for PAH
  SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PAH

5/18 Interacting proteins for PAH (ENSP00000303500³) via UniProtKB, MINT, and/or STRING (see all 18)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TAT	ENSP00000348234³	STRING: ENSP00000348234
FARS2	ENSP00000316335³	STRING: ENSP00000316335
FARSA	ENSP00000320309³	STRING: ENSP00000320309
FARSB	ENSP00000281828³	STRING: ENSP00000281828
GOT1	ENSP00000359539³	STRING: ENSP00000359539

About this table

5/12 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 12):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006558	L-phenylalanine metabolic process	--	--
GO:0006559	L-phenylalanine catabolic process	TAS	--
GO:0006571	tyrosine biosynthetic process	IEA	--
GO:0008152	metabolic process	--	--
GO:0008652	cellular amino acid biosynthetic process	TAS	3856322

About this table

PAH for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

PAH for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PAH
10/61 Novoseek chemical compound relationships for PAH gene (see all 61)

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phenylalanine	97.3	1722	8573072 (8), 10964764 (6), 2302187 (6), 17884650 (5) (see all 99)
hpah	94.4	18	10767175 (2), 12554741 (1), 8570624 (1), 11444803 (1) (see all 17)
tetrahydrobiopterin	94	161	15556637 (2), 16504182 (2), 19913839 (2), 19394257 (2) (see all 99)
4a-hydroxytetrahydrobiopterin	92.6	2	8352282 (1), 1988938 (1)
dihydropteridine	88.7	7	2069475 (1), 1793349 (1), 8352282 (1), 12956422 (1) (see all 7)
pterin	87.3	16	12459906 (2), 12603331 (2), 12696880 (2), 1359535 (1) (see all 11)
7-biopterin	85.2	2	1988938 (2)
tetrahydropterin	82.5	2	1944771 (1), 14999516 (1)
dmph4	81.5	1	2062852 (1)
6-methyltetrahydropterin	80.8	4	1944771 (2), 15493924 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for PAH Sigma-Aldrich shRNA for PAH
		OriGene 29mer shRNA kits in GFP-retroviral vector: PAH OriGene shRNA RFP: PAH OriGene basic RS shRNA: PAH OriGene siRNA: PAH
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of PAH

miRNA:		Sigma-Aldrich microRNA Mimics for PAH Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of PAH
		Search SABiosciences for Assays for microRNAs that regulate PAH

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: PAH OriGene Myc/DDK tagged cDNA clones in CMV expression vector: PAH OriGene untagged cDNA clones in CMV expression vector: PAH OriGene 3'-UTR Clone: PAH Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: PAH

Primers:		OriGene genome-wide validated SYBR primer pairs: PAH Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PAH: PPH16966A

REFSEQ mRNAs for PAH gene:

NM_000277.1

Additional cDNA sequence:

AK298419.1 AK313383.1 BC026251.1 CR599463.1 L47726.1 U49897.1

24 DOTS entries:

DT.95349721 DT.416554 DT.95096800 DT.92456360 DT.100649727 DT.416557 DT.92456345 DT.92456368

DT.121179686 DT.416555 DT.450436 DT.91694235 DT.92040134 DT.95096812 DT.121179705 DT.121179746

DT.92456351 DT.100792283 DT.91993836 DT.92456354 DT.95091252 DT.95096804 DT.91953679 DT.95223236

24/167 AceView cDNA sequences (see all 167):

CB157159 CB163800 AV660089 BG563015 CR599463 AI076719 BG618056 BG567604

AL531676 BE326688 AA344539 AA344407 BX496128 AA334497 AI474885 AV681930

BG617627 CB164338 BG617598 BX495569 BG562757 BX452405 BG567128 AI566078

highest scoring ESTs for PAH:

U49897 AA344407 AA344539 AV647584 AV647660 AV647682 AV647728 AV653234 AV654560 AV655816

Unigene Cluster for PAH:

Phenylalanine hydroxylase

Hs.603740 [show with all ESTs]

Unigene Representative Sequence: NM_000277

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000307000(uc001tjq.1 uc010swc.1) ENST00000452275

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

PAH expression in normal and diseased human tissues

¹ / ² / ³

3 probe-sets matching PAH gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
33701_at²^{, 3}	U95-A	1	0.50	1.00	1.00	1.00	U49897	1.00	1.00	1.00	1
205719_s_at²^{, 3}	U133-A	1	0.64	1.00	--	--	NM_000277	0.60	1.00	0.82	1
205719_s_at²	U133Plus2	1	0.64	1.00	--	--	--	--	--	--	--

About this table

PAH for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: GACAGAATGT

SOURCE GeneReport for Unigene cluster: Hs.603740

Expression variation in blood from EXPOLDB for PAH

Primers:		OriGene genome-wide validated SYBR primer pairs: PAH Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for PAH: PPH16966A

SABiosciences Custom PCR Arrays for PAH

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PAH gene from 5/12 species (see all 12)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PAH¹	--	phenylalanine hydroxylase	90.74(n) 94.99(a)	475446 XM_532671.2 XP_532671.2
chimpanzee (Pan troglodytes)	PAH¹	--	phenylalanine hydroxylase	99.71(n) 99.78(a)	741097 XM_001156860.1 XP_001156860.1
cow (Bos taurus)	PAH¹	--	phenylalanine hydroxylase	89.5(n) 92.68(a)	510583 NM_001046058.1 NP_001039523.1
rat (Rattus norvegicus)	Pah¹	--	phenylalanine hydroxylase	87.54(n) 92.26(a)	24616 NM_012619.1 NP_036751.1
mouse (Mus musculus)	Pah^{1 , 5}	10 (43.64 cM)⁵	phenylalanine hydroxylase^{1, 5}	86.87(n)¹ 92.04(a)¹	18478¹ NM_008777.2¹ NP_032803.1¹ AA968324⁵ AK145839⁵ (see all 12)

About this table Species with no ortholog for PAH

ENSEMBL Gene Tree for PAH (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PAH gene

TPH1² TPH2² TH²

PAH for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Polymorphism: The Glu-274 variant occurs on approximately 4% of African-American PAH alleles. The enzyme activity of

the variant protein is indistinguishable from that of the wild-type form

SNP ID	Valid	Chr 12 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs772893^1,2	C,F,O,A,H,	103239609(-)	`GGTTGG/AGGAAC`	1	--	int¹		16	NS EA NA WA	708
rs772894^1,2	C,F,	103239192(+)	`GCAGAT/CTGGGT`	1	--	int¹		13	NS EA NA WA	632
rs772895^1,2	C,F,O,	103239061(+)	`ACAATT/ATGTTC`	1	--	int¹		15	EA NA NS WA	648
rs772896^1,2	C,F,A,	103237793(-)	`ACCACC/TTTACT`	1	--	int¹		11	NS EA NA WA	612
rs772897^1,2	C,F,H,	103237468(-)	`CCCCTG/CTATTA`	2	/L	syn¹ ref¹ ese³		19	NS EA NA WA	1194
rs772898^1,2	C,A,H,	103235434(-)	`AGAAGA/GGGTGG`	1	--	int¹ trp³		8	NA EA WA	172
rs772899^1,2	C,	103296005(+)	`aggagG/Accggt`	1	--	int¹		7	NA WA	16
rs798709^1,2	C,F,O,H,	103234479(+)	`TCTGTG/ATGTGT`	1	--	int¹		16	EA NA NS WA	670
rs869916^1,2	C,F,A,H,	103244013(-)	`TGTTTC/AGGGAT`	1	--	int¹		15	NA EA NS EU WA	1022
rs870072^1,2	C,F,A,H,	103243177(+)	`atatgC/Taagtc`	1	--	int¹		19	NS EA NA WA	1068

About this table

HapMap Linkage Disequilibrium images for PAH (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PAH
1 Indel: 44960

QIAGEN SeqTarget long-range PCR primers for resequencing PAH

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PAH for disorders About GeneDecksing

OMIM: 612349 disorders: 261600

UniProtKB/Swiss-Prot: PH4H_HUMAN, P00439

Defects in PAH are the cause of phenylketonuria (PKU) [MIM:261600]. PKU is an autosomal recessive inborn error

of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood

concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes

mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation,

rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant 'mousy' odor

Defects in PAH are the cause of non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]. Non-PKU

HPA is a mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below

600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually

caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one

Defects in PAH are the cause of hyperphenylalaninemia (HPA) [MIM:261600]. HPA is the mildest form of

phenylalanine hydroxylase deficiency

10/20 Novoseek disease relationships for PAH gene (see all 20)

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phenylketonurias	98.4	447	18773304 (3), 11139255 (2), 1679030 (2), 8827369 (2) (see all 99)
hyperphenylalaninemia	98.2	202	14601136 (3), 9380432 (2), 17517248 (2), 16527067 (2) (see all 99)
phenylketonuria classical	94.3	38	9427141 (2), 2063869 (1), 7844888 (1), 7584088 (1) (see all 22)
phenylketonuria maternal	81	6	10429004 (3), 19631922 (1), 14654659 (1)
metabolic disorder	64.3	33	1968617 (1), 19172175 (1), 12777691 (1), 18985011 (1) (see all 21)
severe mental retardation	60.4	7	7584088 (1), 10444341 (1), 20123477 (1), 8384712 (1) (see all 5)
mental retardation	58.6	6	7628072 (1), 9950308 (1), 10924272 (1), 17637719 (1)
tyrosinemias	44.6	1	11701644 (1)
enzyme deficiency	43.2	1	19904458 (1)
genetic disorder	36.8	12	17221866 (1), 8100164 (1), 17968763 (1), 2309142 (1) (see all 6)

About this table

Genatlas disease: PAH

phenylketonuria,hyperphenylalaninemia

GeneTests: PAH

Phenylalanine Hydroxylase Deficiency

Locus Specific Mutation Databases (LSDB): PAH
Human Gene Mutation Database (HGMD): PAH
Genetic Association Database (GAD): PAH
Human Genome Epidemiology (HuGE) Navigator: PAH (561 documents)

Export disorders and mutations for PAH gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

New Pulmonary Hypertension Guideline Challenges Use of Calcium Channel Blockers

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/570 PubMed articles for PAH gene, integrated from 7 sources (see all 570):
(articles sorted by number of sources associating them with PAH)

Molecular analysis of phenylketonuria (PKU) in newborns from Texas. (PubMed id 11385716)^{1, 2, 4, 7} Yang Y.... Garcia-Heras J. (2001)
Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine. (PubMed id 11326337)^{1, 2, 7} Gjetting T.... Guettler F. (2001)
Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency. (PubMed id 12200907)^{1, 4, 7} Verduci E....Giovannini M. (2002)
Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene. (PubMed id 9792411)^{1, 2, 7} Waters P.J.... Scriver C.R. (1998)
[Six novel mutations in PAH gene detected by sequencing] (PubMed id 15300621)^{1, 4, 7} Zhang Z....Xu J. (2004)
Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania. (PubMed id 12640344)^{1, 4, 7} Kasnauskiene J....Kucinskas V. (2003)
A phenylalanine hydroxylase amino acid polymorphism with implications for molecular diagnostics. (PubMed id 11461196)^{1, 2, 7} Gjetting T.... Guettler F. (2001)
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria. (PubMed id 11180595)^{1, 2, 7} Acosta A.X.... Zago M.A. (2001)
[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria] (PubMed id 15730960)^{1, 4, 7} Song F....Zhang T. (2005)
Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. (PubMed id 14654659)^{1, 4, 7} Guttler F....Koch R. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5053	HGNC: 8582	AceView: PAH	Ensembl:ENSG00000171759	euGenes: HUgn5053
ECgene: PAH	Kegg: 5053	H-InvDB: PAH

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PAHdb	http://www.pahdb.mcgill.ca/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PAH
Wikipedia	http://en.wikipedia.org/wiki/Phenylalanine_hydroxylase

Intellectual Property for PAH gene
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Patent Information for PAH gene:
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Phenylketonuria Maternal
ENZYME DEFICIENCY
Hyperphenylalaninemia
Neurological Disorders
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Tyrosinemias
Phenylalanine Hydroxylase Deficiency
Cystic Fibrosis
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