Calcium Channel, Voltage Dependent, L-Type, Alpha 1F Subunit (CACNa1F)

CORDX3; CSNB2; CSNB2A; CSNBX2; Cav1.4; JM8; JMC8; COD4; Voltage-gated calcium channel subunit alpha Cav1.4

SPN	R563
HGNC	1393
MGI	1859639
PubMed	17525176
RGD	621535
UniProt	O60840
Wiki	CACNA1F

CACNa1F 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 congential stationary night blindness type 2 (CSNB2).

Reference

"An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness."
Nat. Genet. 19:260-263(1998) [PubMed] [Europe PMC] [Abstract]

"Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness."
Nat. Genet. 19:264-267(1998) [PubMed] [Europe PMC] [Abstract]

"Isolation and characterization of a calcium channel gene, cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness."
Genomics 66:324-327(2000) [PubMed] [Europe PMC] [Abstract]

"Expression and 1,4-dihydropyridine-binding properties of brain L-type calcium channel isoforms."
Mol. Pharmacol. 75:407-414(2009) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp."
Genomics 45:340-347(1997) [PubMed] [Europe PMC] [Abstract]

"A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants."
Hum. Genet. 108:91-97(2001) [PubMed] [Europe PMC] [Abstract]

"Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina."
Eur. J. Hum. Genet. 10:449-456(2002) [PubMed] [Europe PMC] [Abstract]

"Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)."
Ophthalmic Genet. 23:71-97(2002) [PubMed] [Europe PMC] [Abstract]

"A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation."
Proc. Natl. Acad. Sci. U.S.A. 102:7553-7558(2005) [PubMed] [Europe PMC] [Abstract]

"Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness."
Am. J. Hum. Genet. 79:657-667(2006) [PubMed] [Europe PMC] [Abstract]

"X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene."
J. Med. Genet. 43:699-704(2006) [PubMed] [Europe PMC] [Abstract]

"A novel CACNA1F gene mutation causes Aland Island eye disease."
Invest. Ophthalmol. Vis. Sci. 48:2498-2502(2007) [PubMed] [Europe PMC] [Abstract]

"A novel p.Gly603Arg mutation in CACNA1F causes Aland island eye disease and incomplete congenital stationary night blindness phenotypes in a family."
Mol. Vis. 17:3262-3270(2011) [PubMed] [Europe PMC] [Abstract]