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TRPM7

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

TRPM7
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Transient receptor potential cation channel, subfamily M, member 7, also known as TRPM7, is a human gene encoding a protein of the same name.

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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.[5]

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Interactions

TRPM7 has been shown to interact with PLCB1[6] and PLCB2.[6]

Clinical relevance

Patients with pathogenic variants in the TRPM7 gene suffer from hypomagnesemia, seizures and developmental delay.[7][8]


Defects in this gene have been associated with magnesium deficiency in human microvascular endothelial cells.[9]

See also

References

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Further reading

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