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 Valine, leucine and isoleucine degradation and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. 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.