MTMR14
Description
The MTMR14 (myotubularin related protein 14) is a protein-coding gene located on chromosome 3.
MTMR14, also known as Myotubularin related protein 14, is a protein encoded by the MTMR14 gene in humans. Its expression increases during myotube formation and differentiation. It is a phosphatidylinositol-3-phosphatase that removes phosphate groups from the same substrates as myotubularin, PtdIns(3)P and PtdIns(3,5)P2. Mutations in the MTMR14 gene are linked to myotubular myopathy.
MTMR14 is a lipid phosphatase that efficiently removes phosphate groups from phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2. However, it does not affect PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2, or PtdIns(3,4,5)P3.
MTMR14 is also known as C3orf29.
