Aliases for MTMR3 Gene
External Ids for MTMR3 Gene
Previous GeneCards Identifiers for MTMR3 Gene
This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for MTMR3 Gene
MTMR3 (Myotubularin Related Protein 3) is a Protein Coding gene. Diseases associated with MTMR3 include Charcot-Marie-Tooth Disease, Type 4B3 and Myopathy, Centronuclear, X-Linked. Among its related pathways are Macroautophagy and PI Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein serine/threonine phosphatase activity. An important paralog of this gene is MTMR4.
UniProtKB/Swiss-Prot Summary for MTMR3 Gene
Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. May also dephosphorylate proteins phosphorylated on Ser, Thr, and Tyr residues (PubMed:10733931).