TRPC3 Chromosome 4
Transient receptor potential cation channel subfamily C member 3
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What This Gene Does
The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"Transient receptor potential cation channels|Ankyrin repeat domain containing"
Locus Type
gene with protein product
Location
4q27
Ensembl
ENSG00000138741
Associated Conditions (1)
Spinocerebellar ataxia type 41
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2149125943 | Health Risk | Pathogenic | Spinocerebellar ataxia type 41, Spinocerebellar ataxia type 41 |