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.
应用类型
该抗MTMR14抗体产品的应用类型详情查看产品说明书。
免疫原
Full length human recombinant protein of human MTMR14 (NP_001070993) produced in HEK293T cell.
