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This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [provided by RefSeq, Jan 2016],function:Binds to GTP and possesses intrinsic GTPase activity. May play a role in mediating signal transduction (By similarity). May be involved in mediating the insulin secretory response to efaroxan.,similarity:Belongs to the small GTPase superfamily. RasD family.,subunit:Monomer .,tissue specificity:Pancreatic endocrine cells (islets of Langerhans).,
研究领域
