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Gene : CACNA1F Homo sapiens

Name  ? calcium voltage-gated channel subunit alpha1 F Cytological Location  Xp11.23
Brief Description  calcium voltage-gated channel subunit alpha1 F
Description  This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]
  • synonyms:
  • COD4,
  • NM_005183,
  • Cav1.4,
  • AA019975,
  • CSNB2,
  • Cav1.4,
  • CSNBX2,
  • calcium channel, voltage-dependent, L type, alpha 1F subunit,
  • CORDX,
  • CORDX3,
  • CSNBX2,
  • OA2,
  • JMC8,
  • Cav1.4alpha1,
  • JM8,
  • uc004dnb.3,
  • COD3,
  • CACNA1F,
  • OA2,
  • AIED,
  • HGNC:1393,
  • CORDX3,
  • Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2),
  • AIED,
  • JMC8,
  • JM8,
  • CSNB2,
  • CSNB2A,
  • CSNB2A,
  • OTTHUMG00000022703
  • identifiers:
  • 778,
  • ENSG00000102001,

Genome feature

Region: gene ? Length: 28342  
Location: X:49205063-49233404 reverse strand Cyto location: Xp11.23

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0 Pathways

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Gene -> HPO annotation (Human Phenotype Ontology)

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3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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0 Pathways

3740 SNPs

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results