TRPC6 gene
The TRPC6 gene encodes an cation channel which is involved in podocyte function. When mutated, familial FSGS 2 or pulmonary arterial hypertension may ensue. It is not clear at the moment whether solely gain-of-function mutations can cause the disease of loss-of-funtion mutations too.
Gene Structure
The gene TRPC6 is located on chromosome 11 (11q21-q22). It consists of 13 exons, all coding, that stetch about 134.3kb.
Genetests:
Related Diseases:
References:
1. |
Winn MP et al. (1999) Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.
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2. |
Büscher AK et al. (2012) Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
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3. |
Yu Y et al. (2004) Enhanced expression of transient receptor potential channels in idiopathic pulmonary arterial hypertension.
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4. |
Winn MP et al. (2005) A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
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5. |
Orphanet article
Orphanet ID 120298
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6. |
NCBI article
NCBI 7225
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7. |
OMIM.ORG article
Omim 603652
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8. |
Wikipedia article
Wikipedia EN (TRPC6)
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Update: Aug. 14, 2020