DISEASES

Disease-gene associations mined from literature

Literature associating MTMR12 and overhydrated hereditary stomatocytosis

MTMR12 [ENSP00000371577]

Phosphatidylinositol 3 phosphate 3-phosphatase adapter subunit; Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location; Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

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

Linkouts:  STRING  Pharos  UniProt  OMIM