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SCA41

Chr 4AD

transient receptor potential cation channel subfamily C member 3

Also known as: SCA41, TRP3

NCBI Gene: 7222 OMIM: 616410

The protein encoded by this gene is a membrane calcium channel that forms non-selective channels permeable to calcium and other cations, activated by receptor tyrosine kinase signaling and intracellular calcium store depletion. Mutations cause spinocerebellar ataxia 41, a progressive cerebellar disorder with autosomal dominant inheritance. The association between this gene and the ataxia phenotype is still being established, as indicated by the provisional nature of this gene-disease relationship.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— SCA41

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/SCA41?content-type=application/json&expand=1

gnomad: Error: Gene not found