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 and Asphyxia Neonatorum. Among its related pathways are Inositol phosphate metabolism (KEGG) and Cellular Senescence. GO annotations related to this gene include protein tyrosine phosphatase activity and phosphatidylinositol-3-phosphatase activity.
UniProtKB/Swiss-Prot 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.