Aliases for OXSM Gene
External Ids for OXSM Gene
Previous GeneCards Identifiers for OXSM Gene
This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]
GeneCards Summary for OXSM Gene
OXSM (3-Oxoacyl-ACP Synthase, Mitochondrial) is a Protein Coding gene. Diseases associated with OXSM include Fanconi Anemia, Complementation Group D2. Among its related pathways are Fatty acid biosynthesis (KEGG) and palmitate biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity and 3-oxoacyl-[acyl-carrier-protein] synthase activity. An important paralog of this gene is FASN.
UniProtKB/Swiss-Prot Summary for OXSM Gene
May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function.