Full name: myotubularin related protein 2

Gene type: protein coding

RefSeq status: REVIEWED

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

Gene size: 91228bp

Exon count: 21