Entrez gene ID | | 8897 |
Official gene symbol | | MTMR3 |
Full name | | myotubularin related protein 3 |
Aliases | | ,FLJ32333,FYVE-DSP1,KIAA0371,ZFYVE10, |
Gene summary | | This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] |
Location | | Chromosome: 22 Locus: 22q12.2 |
Gene position | | 30279158 - 30426857 Map Viewer |
Gene orientation | | plus |
Gene size | | 147700 bp |
Gene sequence |
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OMIM ID | | 603558 |
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