Gene Symbol | MTMR14 |
Entrez Gene ID | 64419 |
Full Name | myotubularin related protein 14 |
Synonyms | C3orf29 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]. |
Disorder MIM: | |
Disorder Html: | {Centronuclear myopathy, autosomal, modifier of}, 160150 (3) |