Reactivities: | Human |
Presku: | AAP57637 |
Size: | 100ug |
Weight: | 72kDa |
Gene: | 64419 |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | C3orf29; FLJ22405; FLJ90311; hEDTP |