DISEASES

Disease-gene associations mined from literature

Literature associating MTMR2 and Charcot-Marie-Tooth disease type 1D

MTMR2 [ENSP00000345752]

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate; Myotubularins

Synonyms:  MTMR2,  MTMR2p,  hMTMR2,  A0A024R3B7,  C9JEX3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM