CACNA1F
Identifiers
AliasesCACNA1F, AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2, calcium voltage-gated channel subunit alpha1 F
External IDsOMIM: 300110 MGI: 1859639 HomoloGene: 74542 GeneCards: CACNA1F
Orthologs
SpeciesHumanMouse
Entrez

778

54652

Ensembl

ENSG00000102001

ENSMUSG00000031142

UniProt

O60840

Q9JIS7

RefSeq (mRNA)

NM_001256789
NM_001256790
NM_005183

NM_019582

RefSeq (protein)

NP_001243718
NP_001243719
NP_005174

n/a

Location (UCSC)Chr X: 49.21 – 49.23 MbChr X: 7.47 – 7.5 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cav1.4 also known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene.[5]

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 complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The alpha-1 subunit has 24 transmembrane segments and forms the pore through which ions pass into the cell. There are multiple isoforms of each of the proteins in the complex, either encoded by different genes or the result of alternative splicing of transcripts. Alternate transcriptional splice variants of the gene described here have been observed but have not been thoroughly characterized. Mutations in this gene have been shown to cause incomplete X-linked congenital stationary night blindness type 2 (CSNB2).[5]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000102001 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031142 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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