DISEASES

Disease-gene associations mined from literature

Literature associating MTMR7 and Charcot-Marie-Tooth disease type 4B2

MTMR7 [ENSP00000180173]

Myotubularin-related protein 7; Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3- bisphosphate (Ins(1,3)P2).

Synonyms:  MTMR7,  MTMR7p,  hMTMR7,  E5RK11,  Q9Y216 ...

Linkouts:  STRING  Pharos  UniProt  OMIM