IndraLab

Statements

CACNA1F binds AP1S2. 4 / 4
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"Incomplete congenital stationary night blindness type 2 (CSNB2) is an X-linked form of congenital stationary night blindness which is caused by mutations in the voltage-gated calcium-channel gene CACNA1F encoding Ca v 1.4 LTCCs (OMIM: 300110)."
20213496
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"The human diseases comprise: 1) a recessive retinal disorder, X-linked congenital stationary night blindness, associated with mutations in the CACNA1F gene, encoding alpha(1)1.4 subunits of L-type channels; and 2) a group of rare allelic autosomal dominant human neurological disorders including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6, all associated with mutations in the CACNA1A gene, encoding alpha(1)2.1 subunits of P/Q-type calcium channels."
11890456
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"Pathogenic alterations of the CACNA1F gene are mostly associated with incomplete X-linked congenital stationary night blindness type 2A (CSNB2A, MIM 300071), a non-progressive retinal disorder."
24124559
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"Notably, damaging alterations of the CACNA1F gene are mostly associated with incomplete X-linked congenital stationary night blindness type 2A (CSNB2A, MIM 300071), a non-progressive retinal disorder [ xref , xref , xref ]."
24124559