NCBI Description of MTMR2
|This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.|
Community Annotation of MTMR2 Add / Edit MTMR2: Annotations
No community annotations yet for MTMR2.
• "Mouse over" a mutation to see details.
Click on a tumor type to see its full list of significant genes.