{"symbol":"MTMR2","synonyms":["CMT4B1","CMT4B"],"name":"myotubularin related protein 2","description":"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. [provided by RefSeq, Aug 2011]","ncbiEntrezGeneId":8898,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/8898","proteins":[{"symbol":"MTMR2_HUMAN","href":"/api/1.0/protein/MTMR2_HUMAN"}],"hgncRootFamilies":[{"name":"Phosphatases","href":"/api/1.0/gene_family/Phosphatases"}]}