Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 30 days
Specimen type genomic DNA

Related Diseases:

Hereditary FSGS type 2
TRPC6

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.

external link
2.

Büscher AK et al. (2012) Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

external link
3.

Yu Y et al. (2004) Enhanced expression of transient receptor potential channels in idiopathic pulmonary arterial hypertension.

external link
4.

Winn MP et al. (2005) A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.

external link
5.

Orphanet article

Orphanet ID 120298 external link
6.

NCBI article

NCBI 7225 external link
7.

OMIM.ORG article

Omim 603652 external link
8.

Wikipedia article

Wikipedia EN (TRPC6) external link
Update: Aug. 14, 2020
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