Previous symbols: CACNL1A4, SCA6, MHP1, MHP. Aliases: Cav2.1, EA2, APCA, HPCA, FHM.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Autosomal Dominant Cerebellar Ataxia Type III | causative |
mechanism: CACNA1A Polyglutamine Proteotoxicity and ER-Stress Decompensation
subtype: SCA6
animal model: mouse (Mus musculus)
scoped to subtype: SCA6
|
| Episodic Ataxia | causative germline |
mechanism: Cav2.1 P/Q Channel Loss-of-Function (EA2); Purkinje Cell Pacemaking Imprecision (EA2)
subtype: EA2
scoped to subtype: EA2
|
| Exfoliation Syndrome | susceptibility | |
| Familial Hemiplegic Migraine | causative germline gain of function |
mechanism: Cav2.1 Calcium Channel Gain of Function
subtype: FHM1
animal model: Cacna1a R192Q knock-in mouse (FHM1, pure hemiplegic migraine allele); Cacna1a S218L knock-in mouse (FHM1, severe allele)
scoped to subtype: FHM1
|
| Hemiconvulsion-Hemiplegia-Epilepsy Syndrome | susceptibility | |
| Migraine | causative germline | |
| Spinocerebellar Ataxia Type 6 | causative germline | |
| CACNA1A-Related Disorder |
untyped
Causative
|
mechanism: CACNA1A Polyglutamine Expansion in SCA6; P/Q-type Calcium Channel Dysfunction
|
| Autosomal Dominant Cerebellar Ataxia | no genetic record |
mechanism: Coding Polyglutamine Repeat Expansion; Expanded Polyglutamine Protein
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.