Gene Symbol | MTMR2 |
Entrez Gene ID | 8898 |
Full Name | myotubularin related protein 2 |
Synonyms | CMT4B,CMT4B1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Charcot-Marie-Tooth disease, type 4B1, 601382 (3) |