CACNA1F

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]

Description

Calcium voltage-gated channel subunit alpha1 F

Tissue specificity

Tissue enriched (retina)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters
Voltage-gated ion channels

Chromosome

X (49205063 - 49233371)

Ensembl ID

ENSG00000102001  (ver. 103.38)

Orthologs

Mouse Cacna1f: ENSMUSG00000031142

UniProt

O60840

neXtProt

NX_O60840

Human splice variants
Mouse splice variants

Protein structure