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 Linoleic acid metabolism and alpha-linolenic (omega3) and linoleic (omega6) acid metabolism. 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.