Aliases for MTMR14 Gene
External Ids for MTMR14 Gene
Previous HGNC Symbols for MTMR14 Gene
Previous GeneCards Identifiers for MTMR14 Gene
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]
GeneCards Summary for MTMR14 Gene
MTMR14 (Myotubularin Related Protein 14) is a Protein Coding gene. Diseases associated with MTMR14 include Myopathy, Centronuclear, 1 and Centronuclear Myopathy. Among its related pathways are Macroautophagy and Glycerophospholipid biosynthesis. Gene Ontology (GO) annotations related to this gene include protein tyrosine phosphatase activity and phosphatidylinositol-3-phosphatase activity.
UniProtKB/Swiss-Prot Summary for MTMR14 Gene
Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.