TRPM6 Antibody

This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]

ChaK2: is an unusual bifunctional protein containing a transient receptor potential (TRP) ion channel fused to a protein kinase of the Atypical alpha group. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. ChaK2 mutations cause hereditary hypomagnesemia and secondary hypocalcemia (HSH). The TRP voltage-independent calcium-permeable cation channels are divided into six subfa milies, two of which (TRPC and TRPM) have members that are widely expressed and activated by oxidative stress. Related to ChaK1, another Atypical alpha kinase fused to a TRP ion channel protein. Forms homodimers or heterodimers with ChaK1. Six alternatively spliced isoforms have been described, three of which lack the ion channel region.

Protein type: EC 2.7.11.1; Channel, cation; Membrane protein, multi-pass; Kinase, protein; Protein kinase, atypical; Membrane protein, integral; ATYPICAL group; Alpha family; ChaK subfamily

Chromosomal Location of Human Ortholog: 9q21.13

Cellular Component: brush border membrane; apical plasma membrane; integral to membrane; plasma membrane

Molecular Function: protein serine/threonine kinase activity; protein binding; metal ion binding; calcium channel activity; ATP binding

Biological Process: response to toxin; transmembrane transport; protein amino acid phosphorylation

Disease: Hypomagnesemia 1, Intestinal