MTMR12 Proteins and Enzymes

MTMR12, also known as Myotubularin-related protein 12, has 3 isoforms, a 747 amino acid isoform that is 86 kDa, a 693 amino acid isoform that is 80 kda and a 637 amino acid isoform that is 73 kDa, cytoplasm located, ubiquitous with prominent expression in brain, heart, kidney, placenta, and lung; acts as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase for the phosphatase myotubularin to regulate myotubularin intracellular location. Current research is being performed on this protein involvement in cri-u-chat syndrome, cervix uteri carcinoma in situ, pelvic inflammatory disease, centronuclear myopathy, gonorrhea, myopathy, and carcinoma. This protein has shown an interaction with MTMR2, MTM1, KBTBD7, and UBC proteins.