DISEASES

Disease-gene associations mined from literature

Literature associating MTMR6 and centronuclear myopathy X-linked

MTMR6 [ENSP00000371221]

Myotubularin related protein 6; Phosphatase that acts on lipids with a phosphoinositol headgroup. Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4+ T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3 phosphatase. Negatively regulates proliferation of reactivated CD4+ T-cells; Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Synonyms:  MTMR6,  MTMR6p,  hMTMR6,  Q8N5Q4,  Q9Y217 ...

Linkouts:  STRING  Pharos  UniProt  OMIM