anticorps fc14d11, anticorps wu:fc14d11, anticorps MGC131146, anticorps C3orf29, anticorps 1110061O04Rik, anticorps AW553738, anticorps C76151, anticorps RGD1304842, anticorps jumpy, anticorps myotubularin related protein 14, anticorps myotubularin-related protein 14, anticorps myotubularin related protein 14 S homeolog, anticorps mtmr14, anticorps LOC703936, anticorps mtmr14.S, anticorps MTMR14, anticorps Mtmr14
Sujet
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.