Gene: CACNA1F

Alternate names for this Gene: AIED|COD3|COD4|CORDX|CORDX3|CSNB2|CSNB2A|CSNBX2|Cav1.4|Cav1.4alpha1|JM8|JMC8|OA2

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp11.23

Description of this Gene: calcium voltage-gated channel subunit alpha1 F

Type of Gene: protein-coding

rs122456133 in CACNA1F gene and NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A PMID 11281458 2001 A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

PMID 9662399 1998 An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

PMID 9662400 1998 Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

PMID 22194652 2011 A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

PMID 12111638 2002 Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

PMID 12187427 2002 Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture).

PMID 15897456 2005 A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.

PMID 30576320 2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.

rs122456134 in CACNA1F gene and Night blindness, congenital stationary PMID 9662399 1998 An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

PMID 9662400 1998 Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

PMID 11281458 2001 A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.

rs201654095 in CACNA1F gene and Ocular albinism, type II PMID 17525176 2007 A novel CACNA1F gene mutation causes Aland Island eye disease.

PMID 22194652 2011 A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1557106557 in CACNA1F gene and Progressive cone dystrophy (without rod involvement) PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1557106557 in CACNA1F gene and Retinal Dystrophies PMID 25307992 2015 Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.