Entrez gene ID | | 8898 |
Official gene symbol | | MTMR2 |
Full name | | myotubularin related protein 2 |
Aliases | | ,CMT4B,CMT4B1,KIAA1073, |
Gene summary | | This gene is a member of the myotubularin family. 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. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 11 Locus: 11q22 |
Gene position | | 95657371 - 95566044 Map Viewer |
Gene orientation | | minus |
Gene size | | 91328 bp |
Gene sequence |
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OMIM ID | | 603557 |
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