AlphaFold predicted structure
CACNA1A · O00555
Mean pLDDT
57.7/ 100
Low
2,506 residues
Confidence breakdown
- Very high(≥ 90)4%
- Confident(70–90)38%
- Low(50–70)14%
- Very low(< 50)44%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
CACNA1A
Chr 19p13.13calcium voltage-gated channel subunit alpha1 A
- Aliases:
- Cav2.1, EA2, APCA, HPCA, FHM
- MANE:
- ENST00000360228.11
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAlbinism or congenital nystagmus
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedAtaxia and cerebellar anomalies - narrow panel
BOTH monoallelic and biallelic, autosomal or pseudoautosomalBrain channelopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalFamilial cerebral small vessel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Disease associations (Open Targets)
Familial paroxysmal ataxia
0.83episodic ataxia type 2
0.83migraine, familial hemiplegic, 1
0.82developmental and epileptic encephalopathy, 42
0.81spinocerebellar ataxia type 6
0.77Seizure
0.72familial or sporadic hemiplegic migraine
0.68epilepsy
0.64neuropathic pain
0.60fibromyalgia
0.60
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Voltage-dependent P/Q-type calcium channel subunit alpha-1A
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-1A gives rise to P and/or Q-type calcium currents. P/Q-type calcium channels belong to the 'high-voltage activated' (HVA) group and are specifically blocked by the spider omega-agatoxin-IVA (AC P54282) (By similarity). They are however insensitive to dihydropyridines (DHP)
Diseases associated with CACNA1A
Curated MONDO disease pages that list CACNA1A among their top associated genes.