Gene: MTMR2
Alternate names for this Gene: CMT4B|CMT4B1
Gene Summary: 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.
Gene is located in Chromosome: 11
Location in Chromosome : 11q21
Description of this Gene: myotubularin related protein 2
Type of Gene: protein-coding