TRPM7
Template:Short description Template:Infobox gene Transient receptor potential cation channel, subfamily M, member 7, also known as TRPM7, is a human gene encoding a protein of the same name.
Function
TRPs, mammalian homologs of the Drosophila transient receptor potential (trp) protein, are ion channels that are thought to mediate capacitative calcium entry into the cell. TRPM7 is a protein that is both an ion channel and a kinase. As a channel, it conducts calcium and monovalent cations to depolarize cells and increase intracellular calcium. As a kinase, it is capable of phosphorylating itself and other substrates. The kinase activity is necessary for channel function, as shown by its dependence on intracellular ATP and by the kinase mutants.[1]
Interactions
TRPM7 has been shown to interact with PLCB1[2] and PLCB2.[2]
Clinical relevance
Patients with pathogenic variants in the TRPM7 gene suffer from hypomagnesemia, seizures and developmental delay.[3][4]
Defects in this gene have been associated with magnesium deficiency in human microvascular endothelial cells.[5]
See also
References
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Further reading
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External links
- Template:Replace at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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