DISEASES

Disease-gene associations mined from literature

Literature associating MTMR9 and centronuclear myopathy X-linked

MTMR9 [ENSP00000221086]

Myotubularin related protein 9; Probable pseudophosphatase. Contains a Gly residue instead of a conserved Cys residue in the dsPTPase catalytic loop which renders it catalytically inactive as a phosphatase (Potential); Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Synonyms:  MTMR9,  MTMR9p,  hMTMR9,  B7Z291,  DKFZP434K171 ...

Linkouts:  STRING  Pharos  UniProt  OMIM