CACNA1I Chromosome 22
Calcium voltage-gated channel subunit alpha1 I
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What This Gene Does
This gene encodes the pore-forming alpha subunit of a voltage gated calcium channel. The encoded protein is a member of a subfamily of calcium channels referred to as is a low voltage-activated, T-type, calcium channel. The channel encoded by this protein is characterized by a slower activation and inactivation compared to other T-type calcium channels. This protein may be involved in calcium signaling in neurons. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Calcium voltage-gated channel alpha1 subunits
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000100346
Associated Conditions (1)
Neurodevelopmental disorder with speech impairment and with or without seizures
Key Variants
RS775955886
Conflicting classifications of pathogenicity
Health Risk
RS2518160258
Pathogenic
Neurodevelopmental disorder with speech impairment and with or without seizures, Neurodevelopmental disorder with speech impairment and with or without seizures
Health Risk
RS2518182063
Pathogenic
Neurodevelopmental disorder with speech impairment and with or without seizures, Neurodevelopmental disorder with speech impairment and with or without seizures
Health Risk
RS868110178
Pathogenic
Neurodevelopmental disorder with speech impairment and with or without seizures, Neurodevelopmental disorder with speech impairment and with or without seizures
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS775955886 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2518160258 | Health Risk | Pathogenic | Neurodevelopmental disorder with speech impairment and with or without seizures, Neurodevelopmental disorder with speech impairment and with or without seizures |
| RS2518182063 | Health Risk | Pathogenic | Neurodevelopmental disorder with speech impairment and with or without seizures, Neurodevelopmental disorder with speech impairment and with or without seizures |
| RS868110178 | Health Risk | Pathogenic | Neurodevelopmental disorder with speech impairment and with or without seizures, Neurodevelopmental disorder with speech impairment and with or without seizures |