DISEASES

Disease-gene associations mined from literature

Literature on MTMR12

MTMR12 [ENSP00000371577]

Myotubularin-related protein 12; Acts as an adapter for the myotubularin-related phosphatases . Regulates phosphatase MTM1 protein stability and possibly its intracellular location . By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity). ECO:0000269|PubMed:11504939, ECO:0000269|PubMed:12847286,; Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily.

Synonyms:  MTMR12,  MTMR12p,  hMTMR12,  D6RE76,  D6RHK0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM