Aliases for ACAA1 Gene
External Ids for ACAA1 Gene
Previous GeneCards Identifiers for ACAA1 Gene
This gene encodes an enzyme operative in the beta-oxidation system of the peroxisomes. Deficiency of this enzyme leads to pseudo-Zellweger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
GeneCards Summary for ACAA1 Gene
ACAA1 (Acetyl-CoA Acyltransferase 1) is a Protein Coding gene. Diseases associated with ACAA1 include Chondrodysplasia Punctata Syndrome and Rhizomelic Chondrodysplasia Punctata. Among its related pathways are Innate Immune System and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups other than amino-acyl groups and palmitoyl-CoA oxidase activity. An important paralog of this gene is ACAT2.