TRPM6
TRPM6 is a gene that encodes for the protein Transient Receptor Potential Cation Channel Subfamily M Member 6. This protein is a member of the melastatin-related transient receptor potential (TRPM) family of ion channels, which are involved in a variety of physiological processes.
Function[edit | edit source]
The TRPM6 protein is a unique fusion of an ion channel and a kinase. This channel-kinase complex is thought to play a key role in magnesium homeostasis by mediating the epithelial transport of Mg2+ ions. The kinase domain of TRPM6 is capable of phosphorylating itself (autophosphorylation), as well as other substrates. The ion channel domain is permeable to divalent cations, with a preference for magnesium.
Clinical Significance[edit | edit source]
Mutations in the TRPM6 gene are associated with a rare inherited condition known as hypomagnesemia with secondary hypocalcemia (HSH). This condition is characterized by extremely low levels of magnesium (hypomagnesemia) and low levels of calcium (hypocalcemia) in the blood. Symptoms of HSH can include seizures, muscle spasms, and developmental delays.
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References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
