ACADS
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Acyl-CoA dehydrogenase, C-2 to C-3 short chain is an
Structure
The ACADS gene is approximately 13 kb in length and has 10 exons. The coding sequence of this gene is 1239 bp long.[7] The encoded protein has 412 amino acids, and its size is 44.3 kDa (Human) or 44.9 KDa (Mouse).[8][9]
Function
The SCAD enzyme catalyzes the first part of
Clinical significance
Mutations of the ACADS gene are associated with deficiency of the short-chain acyl-coenzyme A dehydrogenase protein (SCADD); this is also known as butyryl-CoA dehydrogenase deficiency. Many mutations have been identified in specific populations, and large-scale studies have been performed to determine the allelic and genotypic frequency for the defective gene.[12][13] As short-chain acyl-CoA dehydrogenase is involved in beta-oxidation, a deficiency in this enzyme is marked by an increased amount of fatty acids. This deficiency is characterized by the presence of increased butyrylcarnitine (C4) in blood plasma, and increased ethylmalonic acid (EMA) concentrations in urine. Genotypes of individuals with this deficiency have it as a result of a mutation, variant, or a combination of the two.[14] Among one population with the disease, three subgroups have been identified: one group has a failure to thrive, feeding difficulties, and hypotonia; another group had seizures; finally, one group had hypotonia and no seizures.[15] Other studies showed that the deficiency may be asymptomatic in some individuals under normal conditions, with symptoms presenting under physiological stress conditions such as fasting or illness.[16] The treatment of this deficiency can sometimes be unclear, because it can sometimes be asymptomatic. The treatment for this disease is similar to treatment of other fatty acid oxidation disorders, by trying to restore biochemical and physiologic homeostasis, by promoting anabolism and providing alternative sources of energy. [14] Flavin adenine dinucleotide supplementation has also been identified as a therapy for this deficiency, because it is an essential cofactor for proper function of SCAD.[17] SCAD deficiency is inherited in an autosomal recessive manner. Carrier testing can be performed for at-risk family members, and prenatal testing is also a possibility. [14]
The ACADS gene has also been implicated in delaying the onset of
In a
See also
- Acyl CoA dehydrogenase
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000122971 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029545 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b "Entrez Gene: Acyl-CoA dehydrogenase, C-2 to C-3 short chain".
- PMID 18054510.
- S2CID 9157185.
- ^ "Protein Information: P16219". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 14 August 2016. Retrieved 23 July 2016.
- ^ "Protein Information: Q07417". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). Archived from the original on 14 August 2016. Retrieved 23 July 2016.
- ISBN 978-0-470-23396-2.
- PMID 20371198.
- PMID 18977676.
- S2CID 46624539.
- ^ PMID 21938826.
- S2CID 25491212.
- PMID 14595061.
- PMID 19952864.
- S2CID 31888136.
- PMID 21211036.
External links
- GeneReviews/NCBI/NIH/UW entry on Short-Chain Acyl-CoA Dehydrogenase Deficiency
- Human ACADS genome location and ACADS gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.