CACNA1I

Chr 22

calcium voltage-gated channel subunit alpha1 I

Also known as: Cav3.3, NEDSIS, ca(v)3.3

NCBI Gene: 8911 ENSG00000100346 UniProt: Q9P0X4

The protein forms the pore-forming alpha subunit of a low voltage-activated, T-type calcium channel that mediates calcium entry into excitable cells and supports pacemaking functions in neurons and calcium signaling in secretory cells. Mutations cause autosomal dominant neurodevelopmental disorder with speech impairment and with or without seizures. The gene is highly constrained against loss-of-function variants (pLI >0.99), indicating that heterozygous protein-disrupting variants are likely pathogenic.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with speech impairment and with or without seizures

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.20

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429