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