This gene encodes a myotubularin-related protein. Thenencoded protein is a phosphoinositide phosphatase that specificallyndephosphorylates phosphatidylinositol 3,5-biphosphate andnphosphatidylinositol 3-phosphate. Mutations in this gene arencorrelated with autosomal dominant centronuclear myopathy.nAlternate splicing results in multiple transcript variants. Anpseudogene of this gene is found on chromosome 18.
应用类型
WB
免疫原
This MTMR14 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 18-45 amino acids from the N-terminal region of human MTMR14.
