Aliases for MTMR6 Gene
External Ids for MTMR6 Gene
Previous GeneCards Identifiers for MTMR6 Gene
GeneCards Summary for MTMR6 Gene
MTMR6 (Myotubularin Related Protein 6) is a Protein Coding gene. Diseases associated with MTMR6 include Myopathy, Centronuclear, X-Linked and Rh Deficiency Syndrome. Among its related pathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR7.
UniProtKB/Swiss-Prot Summary for MTMR6 Gene
Phosphatase that acts on lipids with a phosphoinositol headgroup (PubMed:19038970, PubMed:22647598). Dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,5-bisphosphate (PubMed:19038970, PubMed:22647598) (Probable). Binds with high affinity to phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) but also to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P), phosphatidic acid and phosphatidylserine (PubMed:19038970). Negatively regulates ER-Golgi protein transport (By similarity). Probably in association with MTMR9, plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4(+) T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3-phosphate (PubMed:15831468). Negatively regulates proliferation of reactivated CD4(+) T-cells (PubMed:16847315). In complex with MTMR9, negatively regulates DNA damage-induced apoptosis (PubMed:19038970, PubMed:22647598). The formation of the MTMR6-MTMR9 complex stabilizes both MTMR6 and MTMR9 protein levels (PubMed:19038970).