MTMR2, Official Symbol MTMR2provided by HGNC Official Full Name myotubularin related protein 2provided by HGNC Primary source HGNC:HGNC:7450 See related Ensembl:ENSG00000087053 MIM:603557; AllianceGenome:HGNC:7450 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CMT4B; CMT4B1 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. [provided by RefSeq, Aug 2011] Expression Ubiquitous expression in testis (RPKM 15.9), brain (RPKM 10.1) and 25 other tissues See more Orthologs mouse all