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- Table of Contents
Facts about Voltage-dependent L-type calcium channel subunit alpha-1F.
Long- lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines.
Human | |
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Gene Name: | CACNA1F |
Uniprot: | O60840 |
Entrez: | 778 |
Belongs to: |
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calcium channel alpha-1 subunit (TC 1.A.1.11) family |
AIED; CACNAF1; calcium channel, voltage-dependent, L type, alpha 1F subunit; Cav1.4; Cav1.4alpha1; COD4; CORDX; CORDX3CSNB2; CSNB2AAland island eye disease (Forsius-Eriksson ocular albinism, ocular albinismtype 2); CSNBX2; JM8; JMC8; OA2COD3; voltage-dependent L-type calcium channel subunit alpha-1F; Voltage-gated calcium channel subunit alpha Cav1.4
Mass (kDA):
220.678 kDA
Human | |
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Location: | Xp11.23 |
Sequence: | X; NC_000023.11 (49205063..49233404, complement) |
Expression in skeletal muscle and retina (PubMed:10873387). Isoform 4 is expressed in retina (PubMed:27226626).
Membrane; Multi-pass membrane protein.
PMID: 9662399 by Strom T.M., et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
PMID: 9662400 by Bech-Hansen N.T., et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.