known as the calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), is a human gene. This gene encodes a member of the alpha-1 subunit family;...

41-50. Jalkanen R, Bech-Hansen NT, Tobias R, et al. (June 2007). "A novel CACNA1F gene mutation causes Aland Island eye disease". Invest. Ophthalmol. Vis...

neurotransmission function; this is caused primarily by mutations in the gene CACNA1F, which encodes a voltage-gated calcium channel important for neurotransmitter...

mutations are found in NYX (nyctalopin). CSNB-2 involves mutations of CACNA1F, a voltage-gated calcium channel that, when mutated, does not conduct ions...

activation of the channels. CACNA1C, CACNA1D, CACNA1S, CACNA1F CACNA1C CACNA1D CACNA1S CACNA1F Felizola SJ, Maekawa T, Nakamura Y, Satoh F, Ono Y, Kikuchi...

Q13936 2036 CACNA1D HGNC:1391 Q01668 2037 CACNA1E HGNC:1392 Q15878 2038 CACNA1F HGNC:1393 O60840 2039 CACNA1G HGNC:1394 O43497 2040 CACNA1H HGNC:1395 O95180...

activated) Cav1.1 (CACNA1S) Cav1.2 (CACNA1C) Cav1.3 (CACNA1D) Cav1.4 (CACNA1F) α2δ, β, γ Skeletal muscle, smooth muscle, bone (osteoblasts), ventricular...

activated) Cav1.1 (CACNA1S) Cav1.2 (CACNA1C) Cav1.3 (CACNA1D) Cav1.4 (CACNA1F) α2δ, β, γ Skeletal muscle, smooth muscle, bone (osteoblasts), ventricular...

MCOLN2; MCOLN3; TRPA1 PKD1L3; CACNA1A; CACNA1B; CACNA1C; CACNA1D; CACNA1E; CACNA1F; CACNA1G; CACNA1H; CACNA1I; CACNA1S CATSPER1; CATSPER2; CATSPER3; CATSPER4...

congenital stationary night blindness (CSNB) through mutations in the CACNA1F gene, which codes for the αF1-subunit of the L-type calcium channel Cav1...

S, Moore AT, Trump D, Hardcastle AJ (February 2003). "Mutations in the CACNA1F and NYX genes in British CSNBX families". Human Mutation. 21 (2): 169....

NOTCH2 Alagille syndrome; 118450; JAG1 Aland Island eye disease; 300600; CACNA1F Albinism, brown oculocutaneous; 203200; OCA2 Albinism, brown; 203290; TYRP1...