Aliases for MTMR8 Gene
External Ids for MTMR8 Gene
Previous GeneCards Identifiers for MTMR8 Gene
This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [provided by RefSeq, Mar 2010]
GeneCards Summary for MTMR8 Gene
MTMR8 (Myotubularin Related Protein 8) is a Protein Coding gene. Diseases associated with MTMR8 include Myopathy, Centronuclear, X-Linked and Galactosemia Iii. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatase activity and phosphatidylinositol-3-phosphatase activity. An important paralog of this gene is MTMR6.
UniProtKB/Swiss-Prot Summary for MTMR8 Gene
Phosphatase that acts on lipids with a phosphoinositol headgroup (PubMed:22647598, PubMed:26143924). Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:22647598, PubMed:26143924). In complex with MTMR9, negatively regulates autophagy (PubMed:22647598).