Aliases for HMGCS1 Gene
External Ids for HMGCS1 Gene
Previous HGNC Symbols for HMGCS1 Gene
Previous GeneCards Identifiers for HMGCS1 Gene
GeneCards Summary for HMGCS1 Gene
HMGCS1 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 1) is a Protein Coding gene. Diseases associated with HMGCS1 include Fetal Akinesia Deformation Sequence 1. Among its related pathways are Terpenoid backbone biosynthesis and Regulation of cholesterol biosynthesis by SREBP (SREBF). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and isomerase activity. An important paralog of this gene is HMGCS2.
UniProtKB/Swiss-Prot Summary for HMGCS1 Gene
Catalyzes the condensation of acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate, a precursor for cholesterol synthesis.