Calcium Channel, Voltage-Dependent, Alpha-1F Subunit

Alternative Names

CACNA1F

Length

28,278 bases

No. of Exons

No. of isoforms

Protein Name

Voltage-dependent L-type calcium channel subunit alpha-1F

Molecular Mass

220678 Da

Amino Acid Count

1977

Genomic Location

chrX:49,205,063-49,233,340

Gene Map Locus

Xp11.23

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. [From RefSeq]

Epidemiology in the Arab World

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Saudi Arabia

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001256789.3:c.1870G>A	Saudi Arabia	NC_000023.11:g.49224768C>T	Benign, Likely Benign, Uncertain Significance	Likely Pathogenic	Cone-Rod Dystrophy, X-Linked, 3	NG_009095.2:g.13599G>A; NM_001256789.3:c.1870G>A; NP_001243718.1:p.Val624Ile	141010716	259657

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External Links

https://medlineplus.gov/genetics/gene/cacna1f/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=CACNA1F

Contributors

Sayeeda Hana: 29.08.2024

Edit History

Sayeeda Hana: 29.08.2024

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