DISEASES

Disease-gene associations mined from literature

Literature associating MTMR6 and centronuclear myopathy X-linked

MTMR6 [ENSP00000371221]

Myotubularin-related protein 6; Phosphatase that acts on lipids with a phosphoinositol headgroup . Dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,5-bisphosphate (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 . 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 . Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4(+) T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3-phosphate . Negatively regulates proliferation of reactivated CD4(+) T-cells . In complex with MTMR9, negatively regulates DNA damage-induced apoptosis . The formation of the MTMR6-MTMR9 complex stabilizes both MTMR6 and MTMR9 protein levels . ECO:0000269|PubMed:15831468, ECO:0000269|PubMed:16847315, ECO:0000269|PubMed:19038970, ECO:0000269|PubMed:22647598,; Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily.

Synonyms:  MTMR6,  MTMR6p,  hMTMR6,  Q9Y217,  Q9Y217p ...

Linkouts:  STRING  Pharos  UniProt  OMIM