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 Cervix Uteri Carcinoma In Situ. 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.