Primary Identifier | MGI:96159 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 15357 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTPase regulator activity and hydroxymethylglutaryl-CoA reductase (NADPH) activity. Involved in negative regulation of amyloid-beta clearance; negative regulation of protein catabolic process; and negative regulation of protein secretion. Acts upstream of or within several processes, including long-term synaptic potentiation; regulation of MAPK cascade; and visual learning. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane and peroxisomal membrane. Is expressed in several structures, including autopod; branchial arch; central nervous system; ganglia; and heart valve. Human ortholog(s) of this gene implicated in several diseases, including attention deficit hyperactivity disorder; coronary artery disease (multiple); diabetes mellitus (multiple); muscular disease (multiple); and neurodegenerative disease (multiple). Orthologous to human HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase). PHENOTYPE: Inactivation of both copies of this gene results in early embryonic lethality. [provided by MGI curators] |