CACNA1F

Gene

calcium voltage-gated channel subunit alpha1 F

HGNCHGNC:1393 EnsemblENSG00000102001 NCBI Gene778

Locus: gene with protein productLocation: Xp11.23

Encodes

via encodes

The protein product this gene encodes, reached through the canonical GENE→PROTEIN (encodes) relation. Its biology, drugs, indications, trials and therapeutic evidence live on the protein's own page.

Voltage-dependent L-type calcium channel subunit alpha-1FO60840

Protein · therapeutic target

Clinically validated target · 36 approved medicines against this target

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Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asCSNB2 · AIED · Cav1.4 · JM8 · JMC8 · CSNBX2 · CORDX3 · CSNB2A · OA2

View full nomenclature history (11)

Previous symbolsCSNB2, AIED

Alias symbolsCav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2

Previous namesAland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2), calcium channel, voltage-dependent, L type, alpha 1F subunit

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

congenital stationary night blindness 2A

Aland island eye disease

Cone rod dystrophy

X-linked cone-rod dystrophy 3

Congenital stationary night blindness

Åland Islands eye disease

Cone-rod dystrophy

Epilepsy

Coronary Artery Disease

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Calcium voltage-gated channel alpha1 subunits

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.