Entrez gene ID | | 64419 |
Official gene symbol | | MTMR14 |
Full name | | myotubularin related protein 14 |
Aliases | | ,C3orf29,FLJ11546,FLJ22405,FLJ46453,FLJ90311, |
Gene 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. |
Location | | Chromosome: 3 Locus: 3p26 |
Gene position | | 9691117 - 9744078 Map Viewer |
Gene orientation | | plus |
Gene size | | 52962 bp |
Gene sequence |
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OMIM ID | | 611089 |