TRPV5
TRPV5 or Transient Receptor Potential Cation Channel Subfamily V Member 5 is a protein that in humans is encoded by the TRPV5 gene. It is a member of the TRP channel superfamily.
Function
TRPV5 is a member of the transient receptor potential (TRP) group of ion channels. It is a highly calcium-selective channel that is constitutively active and regulated by intracellular calcium. It is activated by lower temperatures and has a role in calcium transport in epithelial tissues.
Structure
The TRPV5 protein is a homotetramer with six transmembrane domains and a pore-forming loop between the fifth and sixth domains. The N- and C-termini of the protein are located in the cytoplasm. The protein has several phosphorylation sites, which are important for its regulation.
Clinical significance
Mutations in the TRPV5 gene have been associated with hypercalciuria and nephrolithiasis. In addition, TRPV5 plays a role in the reabsorption of calcium in the kidney, and alterations in this process can lead to disorders of calcium balance.
See also
References
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External links
- TRPV5 at GeneCards
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