CACNA1A Chromosome 19
Calcium voltage-gated channel subunit alpha1 A
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What This Gene Does
Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
Calcium voltage-gated channel alpha1 subunits
Locus Type
gene with protein product
Location
19p13.13
Ensembl
ENSG00000141837
Associated Conditions (60)
Episodic ataxia type 2
Developmental and epileptic encephalopathy
42
Inborn genetic diseases
CACNA1A-related disorder
Spastic paraparesis
Cerebellar ataxia
Intention tremor
Dysarthria
Mild global developmental delay
Intellectual disability
Cerebellar atrophy
52
Spinocerebellar ataxia type 6
Migraine
familial hemiplegic
1
Tip-toe gait
Hereditary episodic ataxia
Seizure
+40 more conditions
Key Variants
RS1005361810
Conflicting classifications of pathogenicity
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
Health Risk
RS1006425986
Conflicting classifications of pathogenicity
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
Health Risk
RS1010331313
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2
Health Risk
RS1013100046
Conflicting classifications of pathogenicity
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
Health Risk
RS1032588483
Conflicting classifications of pathogenicity
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
Health Risk
RS1033214914
Conflicting classifications of pathogenicity
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
Health Risk
RS1038705410
Conflicting classifications of pathogenicity
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
Health Risk
RS1042634748
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2
Health Risk
RS1057518615
Conflicting classifications of pathogenicity
CACNA1A-related disorder, CACNA1A-related disorder
Health Risk
RS1057518779
Conflicting classifications of pathogenicity
Spastic paraparesis, Cerebellar ataxia, Intention tremor
Health Risk
RS1057519429
Conflicting classifications of pathogenicity
Cerebellar ataxia, Intellectual disability, Cerebellar atrophy
Health Risk
RS1057521565
Conflicting classifications of pathogenicity
Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42
Health Risk
All Variants (746)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1600353301 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS201612257 | Health Risk | Pathogenic | — |
| RS2054683190 | Health Risk | Pathogenic | — |
| RS2054856814 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2056443833 | Health Risk | Pathogenic | — |
| RS2056600391 | Health Risk | Pathogenic | Episodic ataxia type 2, Episodic ataxia type 2 |
| RS2056602254 | Health Risk | Pathogenic | — |
| RS2056602306 | Health Risk | Pathogenic | — |
| RS2056674737 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2056733058 | Health Risk | Pathogenic | — |
| RS2056733130 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2057136334 | Health Risk | Pathogenic | — |
| RS2057373332 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2057717676 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2057721188 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2057722066 | Health Risk | Pathogenic | — |
| RS2057736834 | Health Risk | Pathogenic | Episodic ataxia type 2, Episodic ataxia type 2 |
| RS2057739636 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2057740525 | Health Risk | Pathogenic | — |
| RS2057842904 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2057948232 | Health Risk | Pathogenic | Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6 |
| RS2057953268 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2058143736 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2058556589 | Health Risk | Pathogenic | CACNA1A-related disorder, CACNA1A-related disorder |
| RS2059069286 | Health Risk | Pathogenic | Spinocerebellar ataxia type 6, Developmental and epileptic encephalopathy, 42 |
| RS2059190992 | Health Risk | Pathogenic | Disorder of sexual differentiation, Disorder of sexual differentiation |
| RS2144506286 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144506487 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144524536 | Health Risk | Pathogenic | — |
| RS2144524927 | Health Risk | Pathogenic | — |
| RS2144536044 | Health Risk | Pathogenic | — |
| RS2144616676 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144622191 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2144622488 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144629622 | Health Risk | Pathogenic | Migraine, familial hemiplegic, 1 |
| RS2144647916 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2144649756 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 52, Episodic ataxia type 2 |
| RS2144726142 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144726226 | Health Risk | Pathogenic | — |
| RS2144726274 | Health Risk | Pathogenic | — |
| RS2144735303 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2144748340 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144758193 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2144772838 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144839766 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |
| RS2144880750 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144887631 | Health Risk | Pathogenic | Spinocerebellar ataxia type 6, Spinocerebellar ataxia type 6 |
| RS2144888569 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144889523 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 42, Episodic ataxia type 2 |
| RS2144936041 | Health Risk | Pathogenic | Episodic ataxia type 2, Developmental and epileptic encephalopathy, 42 |