TRPC4 Chromosome 13

Transient receptor potential cation channel subfamily C member 4
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"Transient receptor potential cation channels|Ankyrin repeat domain containing"
Locus Type
gene with protein product
Location
13q13.3
Ensembl
ENSG00000133107
Associated Conditions (2)
Autism
susceptiblity to
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS80164537 Health Risk Pathogenic Autism, susceptiblity to, Autism
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