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 Cri-Du-Chat Syndrome and Centronuclear Myopathy. 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 for MTMR12 Gene
Catalytically inactive phosphatase that plays a role as an adapter for the phosphatase myotubularin to regulate myotubularin intracellular location.