Aliases for MTMR7 Gene
External Ids for MTMR7 Gene
Previous GeneCards Identifiers for MTMR7 Gene
This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]
GeneCards Summary for MTMR7 Gene
MTMR7 (Myotubularin Related Protein 7) is a Protein Coding gene. Diseases associated with MTMR7 include Generalized Epilepsy With Febrile Seizures Plus. Among its related pathways are PI Metabolism and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatidylinositol phosphate phosphatase activity. An important paralog of this gene is MTMR6.
UniProtKB/Swiss-Prot Summary for MTMR7 Gene
Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3-bisphosphate (Ins(1,3)P2).