TRPC5 Chromosome X
Transient receptor potential cation channel subfamily C member 5
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What This Gene Does
This gene belongs to the transient receptor family. It encodes one of the seven mammalian TRPC (transient receptor potential channel) proteins. The encoded protein is a multi-pass membrane protein and is thought to form a receptor-activated non-selective calcium permeant cation channel. The protein is active alone or as a heteromultimeric assembly with TRPC1, TRPC3, and TRPC4. It also interacts with multiple proteins including calmodulin, CABP1, enkurin, Na(+)-H+ exchange regulatory factor (NHERF ), interferon-induced GTP-binding protein (MX1), ring finger protein 24 (RNF24), and SEC14 domain and spectrin repeat-containing protein 1 (SESTD1). [provided by RefSeq, May 2010]
Gene Info
Gene Group
"Transient receptor potential cation channels|Ankyrin repeat domain containing|Protein phosphatase 1 regulatory subunits"
Locus Type
gene with protein product
Location
Xq23
Ensembl
ENSG00000072315
Associated Conditions (1)
TRPC5-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145407228 | Health Risk | Conflicting classifications of pathogenicity | TRPC5-related disorder, TRPC5-related disorder |