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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- TRPV5 at GeneCards
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Contributors: Prab R. Tumpati, MD
