fc14d11 antibody, wu:fc14d11 antibody, MGC131146 antibody, C3orf29 antibody, 1110061O04Rik antibody, AW553738 antibody, C76151 antibody, RGD1304842 antibody, jumpy antibody, myotubularin related protein 14 antibody, myotubularin-related protein 14 antibody, myotubularin related protein 14 S homeolog antibody, mtmr14 antibody, LOC703936 antibody, mtmr14.S antibody, MTMR14 antibody, Mtmr14 antibody
Background
Synonyms:C3orf29 Background:This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3, 5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.