Aliases for ACAD9 Gene
External Ids for ACAD9 Gene
Previous GeneCards Identifiers for ACAD9 Gene
This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
GeneCards Summary for ACAD9 Gene
ACAD9 (Acyl-CoA Dehydrogenase Family Member 9) is a Protein Coding gene. Diseases associated with ACAD9 include Mitochondrial Complex I Deficiency Due To Acad9 Deficiency and Fatal Infantile Encephalocardiomyopathy. Among its related pathways are Glucose / Energy Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACAD8.
UniProtKB/Swiss-Prot for ACAD9 Gene
Required for mitochondrial complex I assembly (PubMed:20816094, PubMed:24158852). Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. However, it does not play a primary role in long-chain fatty acid oxidation in vivo (PubMed:20816094, PubMed:24158852). Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).