Aliases &
Descriptions
for CACNA1F gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| calcium channel, voltage-dependent, L type, alpha 1F subunit1 2 | | OA22 5 | | CORDX31 2 5 | | CSNB22 5 | | CSNB2A1 2 5 | | AIED2 5 | | COD41 2 | | Cav1.4alpha12 | | Cav1.41 2 | | voltage-dependent L-type calcium channel subunit alpha-1F2 | | CSNBX21 2 | | CORDX2 | | JMC81 2 | | OTTHUMP000000242992 | | JM81 2 | | COD32 | | Voltage-gated calcium channel subunit alpha Cav1.42 3 | | CACNAF13 |
Export aliases for CACNA1F gene to outside databasesPrevious GC identifers: GC0XM047844 GC0XM047302 GC0XM047868 GC0XM048087 GC0XM048817 GC0XM048948 GC0XM049061 |
Summaries
for CACNA1F gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CACNA1F:
This gene encodes a member of the alpha-1 subunit family; a protein in the voltage-dependent calcium channel complex.Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complexof alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembranesegments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteinsin the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternatetranscriptional splice variants of the gene described here have been observed but have not been thoroughlycharacterized. Mutations in this gene have been shown to cause incomplete X-linked congential stationary nightblindness type 2 (CSNB2). (provided by RefSeq)
UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are alsoinvolved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitterrelease, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-typecalcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They areblocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA).They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA)
 summary
for CACNA1F: Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium
influx in response to depolarisation. They regulate intracellular processes such as contraction, secretion,
neurotransmission and gene expression. Voltage-gated calcium channels are formed from four or five distinct
subunits; the alpha-subunit is the largest subunit and incorporates the voltage sensor, conduction pore and
gating apparatus. Using pharmacological and electrophysiological techniques, at least 6 types of
voltage-gated channels have been identified: L, N, P, Q, R and T, which are grouped into three families.
Cav1.x are high-voltage-activated dihydropyridine-sensitive (L-type), Cav2.x are high-voltage-activated
dihydropyridine-insensitive (N-, P- Q- and R-types) and Cav3.x are low-voltage-activated channels (T-type).
|
Genomic Views
for CACNA1F gene
(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 CACNA1F gene promoter:
IRF-7A Max c-Myc C/EBPbeta Arnt SRF LCR-F1 Nkx2-2 Pax-5 ARP-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CACNA1F
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: Xp11.23 Ensembl cytogenetic band: Xp11.23 HGNC cytogenetic band: Xp11.23CACNA1F Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM046718: view genomic region
(about GC identifiers)
Start:
|
46,718,790 bp from pter |
End:
|
46,746,229 bp from pter |
Size:
|
27,440 bases |
Orientation:
|
minus strand |
1 alternative location:
| ChrX- 49,061,523-49,089,833 |
RefSeq DNA sequence:- NC_000023.10 NT_079573.4
|
Proteins
for CACNA1F gene
(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: CAC1F_HUMAN, O60840 (See
protein sequence)Recommended Name: Voltage-dependent L-type calcium channel subunit alpha-1F Size: 1977 amino acids; 220678 Da
Subunit: Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and deltasubunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. Theauxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity. Interacts (viaIQ domain) with CABP4; in a calcium independent manner (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAB92359.1; Type=Erroneous gene model prediction;
Secondary accessions: A6NI29 O43901 Q9UHB1Alternative splicing: 2 isoforms: O60840-1 O60840-2 Explore the universe of human proteins at neXtProt for CACNA1F: NX_O60840
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_005174.2
ENSEMBL proteins: ENSP00000321618 ENSP00000365441 ENSP00000365427 ENSP00000418961
Human Recombinant Proteins
3 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
CACNA1F for ontologies About GeneDecksing
Antibodies for CACNA1F:
Assays for CACNA1F: |
Protein
Domains/
Families
for CACNA1F gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CACNA1F for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry O60840ProtoNet protein and cluster: O60840 2 Blocks protein families: IPB002077 Calcium channel signature IPB005446 L-type voltage-dependent calcium channel alpha-1 subunit signature
UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840Domain: Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and onepositively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterizedby a series of positively charged amino acids at every third positionSimilarity: Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1F subfamily |
Gene Function
for CACNA1F gene
(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: CAC1F_HUMAN, O60840Function: Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are alsoinvolved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitterrelease, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-typecalcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They areblocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA).They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA)
Genatlas biochemistry entry for CACNA1F:transverse tubule (TT) calcium voltage-gated channel (VDCC),L (long lasting) type,dihydropyridine (DHP) sensitive,alpha1F subunit,specifically expressed in retina4 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
CACNA1F for ontologies About GeneDecksing
Animal Models: 3 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Cacna1f):
CACNA1F for phenotypes About GeneDecksing
|
Pathways & Interactions
for CACNA1F gene
(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
|
CACNA1F for pathways About GeneDecksing
3  Millipore Pathways for CACNA1F
5/9  Kegg Pathways (Kegg details for CACNA1F) (see all 9):
SABiosciences Custom Pathway-Focused PCR Arrays for CACNA1F
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CACNA1F
5/34 Interacting proteins for CACNA1F (ENSP000003654413 O608401, 2) via UniProtKB, MINT, and/or STRING (see all 34)About this table
5/10 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 10): About this table
CACNA1F for ontologies About GeneDecksing
|
Drugs & Compounds
for CACNA1F gene(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
|
CACNA1F for compounds About GeneDecksing
Compounds for CACNA1F available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| FPL 64176 | Potent activator of Ca2+ channels (L-type) | [120934-96-5] | | Nimodipine | Ca2+ channel blocker (L-type) | [66085-59-4] | | (S)-(-)-Bay K 8644 | Ca2+-channel activator (L-type) | [98625-26-4] | | (±)-Bay K 8644 | Ca2+-channel activator (L-type) | [71145-03-4] | | Isradipine | Ca2+ channel blocker (L-type) | [75695-93-1] |
About this table
1  Novoseek chemical compound relationship for CACNA1F gene
About this table
|
Transcripts
for CACNA1F gene(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
|
REFSEQ mRNAs for CACNA1F gene: NM_005183.2 Additional cDNA sequence: AF067227.1 AF201304.1 AJ224874.1 6 DOTS entries: DT.40280271 DT.100745280 DT.92069916 DT.100738011 DT.100745281 DT.101961842 24 AceView cDNA sequences: BM703915 BM681368 BM932223 BM684979 CK301055 AL712794 AF067227 BQ636841 NM_005183 CD369408 BX099776 AJ224874 AF201304 BM728193 BQ186213 BF847103 CD369391 AA317815 BU619350 BM685216 BM931932 BX642510 AA019974 AA019975
 highest scoring ESTs for CACNA1F:AF067227 AF201304 AJ224874 AL712794 AA019975 AA317815 BF847103 BM681368 BM684979 BM685216 Unigene Cluster for CACNA1F: Calcium channel, voltage-dependent, L type, alpha 1F subunit Hs.632799 [show with all ESTs]Unigene Representative Sequence: NM_005183
GeneLoc Exon Structure
6 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000481035 ENST00000323022(uc010nip.2) ENST00000480889 ENST00000376265(uc004dnb.2)
ENST00000376251 ENST00000486943
|
Expression
for CACNA1F gene
(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
| CACNA1F expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching CACNA1F gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 35584_s_at2, 3
|
U95-A |
1 |
0.50 |
1.00 |
1.00 |
1.00 |
AJ006216 |
0.20 |
1.00 |
0.72 |
1 |
| 208377_s_at2, 3
|
U133-A |
1 |
0.73 |
1.00 |
-- |
-- |
NM_005183 |
0.60 |
1.00 |
0.82 |
1 |
| 208377_s_at2
|
U133Plus2 |
1 |
0.73 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
CACNA1F for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GACCACAAAA
SOURCE GeneReport for Unigene cluster: Hs.632799
Expression variation in blood from EXPOLDB for CACNA1F UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840Tissue specificity: Expression in skeletal muscle and retina
SABiosciences Custom PCR Arrays for CACNA1F
|
Orthologs
for CACNA1F gene
(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 CACNA1F gene from 5/7 species (see all 7)
| Organism |
Gene |
Locus |
Description |
Human
Similarity |
NCBI accessions |
dog
(Canis familiaris) |
CACNA1F1 |
-- |
calcium channel, voltage-dependent, L type, alpha 1F more |
88.8(n)
92.24(a) |
480915 XM_538035.2 XP_538035.2 |
cow
(Bos taurus) |
CACNA1F1 |
-- |
calcium channel, voltage-dependent, L type, alpha 1F more |
91(n)
93.91(a) |
509779 XM_586812.3 XP_586812.3 |
rat
(Rattus norvegicus) |
Cacna1f1 |
-- |
calcium channel, voltage-dependent, L type, alpha 1F more |
86.64(n)
91.45(a) |
114493 NM_053701.1 NP_446153.1 |
mouse
(Mus musculus) |
Cacna1f1 , 5 |
X (3.42 cM)5
|
calcium channel, voltage-dependent, alpha 1F subunit1, 5 |
87.66(n)1
92.26(a)1 |
546521 NM_019582.21 NP_062528.21
AF1924975 AJ5798525 (see all 13) |
zebrafish
(Danio rerio) |
CH211-157C18.11 |
-- |
novel protein similar to vertebrate voltage-dependent more |
68.32(n)
73.57(a) |
559964 XM_683360.2 XP_688452.2 |
About this table Species with no ortholog for CACNA1F
ENSEMBL Gene Tree for CACNA1F (if available) |
Paralogs
for CACNA1F gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for CACNA1F gene
- CACNA1A2 CACNA1C2 CACNA1S2 CACNA1D2 CACNA1E2 CACNA1B2
CACNA1F for paralogs About GeneDecksing
|
Genomic Variants
for CACNA1F gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr X pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for CACNA1F (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for CACNA1F
3 CNVs: 0824 2278 7789 | | QIAGEN SeqTarget long-range PCR primers for resequencing CACNA1F |
|
Disorders & Mutations
for CACNA1F gene
(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
|
CACNA1F for disorders About GeneDecksing
OMIM: 300110 disorders: 300071 300476 300600 UniProtKB/Swiss-Prot: CAC1F_HUMAN, O60840
Defects in CACNA1F are the cause of congenital stationary night blindness type 2A (CSNB2A) [MIM:300071].Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision Defects in CACNA1F are the cause of cone-rod dystrophy X-linked type 3 (CORDX3) [MIM:300476]. CORDs areinherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinalpigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of conephotoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the centralvisual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa Defects in CACNA1F are the cause of Aaland island eye disease (AIED) [MIM:300600]; also known asForsius-Eriksson type ocular albinism. On the Aaland island in the Baltic Sea, AIED is an X-linked recessive retinaldisease characterized by a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia,nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression ofaxial myopia, the disease can be considered to be a stationary condition. Electroretinography reveals abnormalities inboth photopic and scotopic functions
7 Novoseek disease relationships for CACNA1F gene
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| csnb2 |
99 |
35 |
20238058 (3), 15584351 (2), 9662400 (2), 16960802 (2) (see all 19) |
| night blindness, congenital stationary |
97.9 |
18 |
12719097 (2), 10900517 (1), 12860808 (1), 16505158 (1) (see all 16) |
| csnb1 |
92.9 |
4 |
15584351 (1), 15583843 (1), 12187427 (1), 12610835 (1) |
| oguchis disease |
89.7 |
1 |
15584351 (1) |
| night blindness |
85.3 |
2 |
11078833 (1), 20238058 (1) |
| retinopathy |
61.5 |
7 |
15807819 (2), 16505158 (1), 12719097 (1), 11890456 (1) (see all 6) |
| atrophy |
6.37 |
6 |
12860808 (2), 12208270 (1) |
About this table
GeneTests: CACNA1F
Congenital Stationary Night Blindness
Locus Specific Mutation Databases (LSDB): CACNA1F
Human Gene Mutation Database (HGMD): CACNA1F
Genetic Association Database (GAD): CACNA1F
Human Genome Epidemiology (HuGE) Navigator: CACNA1F (2 documents)
Export disorders and mutations for CACNA1F gene to outside databases
|
Medical News
for CACNA1F gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for CACNA1F gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/53 PubMed articles for CACNA1F gene, integrated from 7 sources (see all 53):
(articles sorted by number of sources associating them with CACNA1F)- Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp. (PubMed id 9344658)1, 2, 3 Fisher S.E.... Craig I.W. (1997)
- X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. (PubMed id 16505158)1, 2, 7 Jalkanen R.... Bech-Hansen N.T. (2006)
- Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family. (PubMed id 12860808)1, 4, 7 Nakamura M....Miyake Y. (2003)
- A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation. (PubMed id 15897456)1, 2, 7 Hemara-Wahanui A.... Maw M.A. (2005)
- A novel CACNA1F gene mutation causes Aland Island eye disease. (PubMed id 17525176)1, 2, 7 Jalkanen R.... Alitalo T. (2007)
- Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. (PubMed id 16960802)1, 2, 7 Zeitz C.... Berger W. (2006)
- Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness. (PubMed id 10873387)1, 2, 7 Naylor M.J.... Bech-Hansen N.T. (2000)
- Loss-of-function mutations in a calcium-channel alpha 1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. (PubMed id 9662400)1, 3, 7 Bech-Hansen N.T....Boycott K.M. (1998)
- Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture). (PubMed id 12187427)1, 2, 7 Weleber R.G. (2002)
- An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. (PubMed id 9662399)1, 2, 7 Strom T.M....Meindl A. (1998)
|
External Searches for CACNA1F gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CACNA1F gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CACNA1F gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CACNA1F gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| Mutations of the CCNA1F gene | http://www.retina-international.com/sci-news/cacnamut.htm |
|
| | |
About This Section
| Patent Information for CACNA1F gene:
Search GeneIP for patents involving CACNA1F
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CACNA1F gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |
| | | |
|
|
