DISEASES

Disease-gene associations mined from literature

Literature associating MTMR9 and distal muscular dystrophy 4

MTMR9 [ENSP00000221086]

Myotubularin-related protein 9; Acts as an adapter for myotubularin-related phosphatases . Increases lipid phosphatase MTMR6 catalytic activity, specifically towards phosphatidylinositol 3,5- bisphosphate and MTMR6 binding affinity for phosphorylated phosphatidylinositols . Positively regulates lipid phosphatase MTMR7 catalytic activity (By similarity). Increases MTMR8 catalytic activity towards phosphatidylinositol 3- phosphate . The formation of the MTMR6-MTMR9 complex, stabilizes both MTMR6 and MTMR9 protein levels . Stabilizes MTMR8 protein levels . Plays a role in the late stages of macropinocytosis possibly by regulating MTMR6-mediated dephosphorylation of phosphatidylinositol 3-phosphate in membrane ruffles . Negatively regulates autophagy, in part via its association with MTMR8 . Negatively regulates DNA damage-induced apoptosis, in part via its association with MTMR6 . Does not bind mono-, di- and tri- phosphorylated phosphatidylinositols, phosphatidic acid and phosphatidylserine . ECO:0000269|PubMed:19038970, ECO:0000269|PubMed:22647598,; Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily.

Synonyms:  MTMR9,  MTMR9p,  hMTMR9,  E9PR67,  Q96QG7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM