Aliases for MTMR12 Gene
External Ids for MTMR12 Gene
Previous HGNC Symbols for MTMR12 Gene
Previous GeneCards Identifiers for MTMR12 Gene
Phosphatidylinositide 3-kinase-derived membrane-anchored phosphatidylinositides, such as phosphatidylinositol 3-phosphate (PtdIns(3)P), regulate diverse cellular processes. The protein encoded by this gene functions as an adaptor subunit in a complex with an active PtdIns(3)P 3-phosphatase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
GeneCards Summary for MTMR12 Gene
MTMR12 (Myotubularin Related Protein 12) is a Protein Coding gene. Diseases associated with MTMR12 include Centronuclear Myopathy and Myopathy, Centronuclear, X-Linked. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatase regulator activity. An important paralog of this gene is MTMR10.
UniProtKB/Swiss-Prot Summary for MTMR12 Gene
Acts as an adapter for the myotubularin-related phosphatases (PubMed:11504939, PubMed:12847286, PubMed:23818870). Regulates phosphatase MTM1 protein stability and possibly its intracellular location (PubMed:23818870). By stabilizing MTM1 protein levels, required for skeletal muscle maintenance but not for myogenesis (By similarity).