Aliases for TRPM6 Gene
External Ids for TRPM6 Gene
Previous HGNC Symbols for TRPM6 Gene
Previous GeneCards Identifiers for TRPM6 Gene
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]
GeneCards Summary for TRPM6 Gene
TRPM6 (Transient Receptor Potential Cation Channel Subfamily M Member 6) is a Protein Coding gene. Diseases associated with TRPM6 include Hypomagnesemia 1, Intestinal and Primary Hypomagnesemia. Among its related pathways are Ion channel transport and TRP channels. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and ion channel activity. An important paralog of this gene is TRPM7.
UniProtKB/Swiss-Prot Summary for TRPM6 Gene
Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region.