AlphaFold predicted structure
CACNA1F · O60840
Mean pLDDT
66.7/ 100
Low
1,977 residues
Confidence breakdown
- Very high(≥ 90)14%
- Confident(70–90)45%
- Low(50–70)13%
- Very low(< 50)28%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
CACNA1F
Chr Xp11.23calcium voltage-gated channel subunit alpha1 F
- Aliases:
- Cav1.4, JM8, JMC8, CSNBX2, CORDX3
- MANE:
- ENST00000323022.10
Annotations refreshed 9 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Albinism or congenital nystagmus
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesRetinal disorders
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Glaucoma (developmental)
Intellectual disability
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Structural eye disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disease associations (Open Targets)
congenital stationary night blindness 2A
0.80Aland island eye disease
0.73Cone rod dystrophy
0.69X-linked cone-rod dystrophy 3
0.66congenital stationary night blindness
0.64Åland Islands eye disease
0.64cone-rod dystrophy
0.61hypertensive disorder
0.61epilepsy
0.61coronary artery disorder
0.61
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Voltage-dependent L-type calcium channel subunit alpha-1F
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1F gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, and by benzothiazepines. Activates at more negative voltages and does not undergo calcium-dependent inactivation (CDI), due to incoming calcium ions, during depolarization
Diseases associated with CACNA1F
Curated MONDO disease pages that list CACNA1F among their top associated genes.