mouse liver tissue were subjected to SDS PAGE followed by western blot with FNab05408(MTMR14 antibody) at dilution of 1:1000
Immunohistochemistry of paraffin-embedded human brian using FNab05408(MTMR14 antibody) at dilution of 1:100
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.