Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transient receptor potential cation channel subfamily V member 5

The TRPV5 gene encodes a calcium channel that has been shown to be associated with nephrolithiasis in epidemilogical studies.

Genetests:

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

Related Diseases:

Susceptibility to nephrolithiasis
ALPL
CASR
SLC26A1
TRPV5
ZNF365

References:

1.

Chang Q et al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.

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2.

Peng JB et al. (2001) Structural conservation of the genes encoding CaT1, CaT2, and related cation channels.

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3.

Suzuki M et al. (2002) A single amino acid mutation results in a rapid inactivation of epithelial calcium channels.

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4.

Hoenderop JG et al. (2003) Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5.

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5.

van der Eerden BC et al. (2005) The epithelial Ca2+ channel TRPV5 is essential for proper osteoclastic bone resorption.

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6.

Müller D et al. (2000) Gene structure and chromosomal mapping of human epithelial calcium channel.

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7.

Müller D et al. (2000) Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial Ca2+ channel (ECAC1).

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8.

OMIM.ORG article

Omim 606679 [^]
9.

NCBI article

NCBI 56302 [^]
10.

Wikipedia article

Wikipedia EN (TRPV5) [^]
Update: April 29, 2019