Biology:ACSF3
 Generic protein structure example |
Acyl-CoA synthetase family member 3 is an enzyme that in humans is encoded by the ACSF3 gene.[1]
Structure
The ACSF3 gene is located on the 16th chromosome, with its specific location being 16q24.3. The gene contains 17 exons.[1] ASCL4 encodes a 64.1 kDa protein that is composed of 576 amino acids; 20 peptides have been observed through mass spectrometry data.[2][3]
Function
This gene encodes a member of the acetyl—CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for malonate and methylmalonate and possesses malonyl-CoA synthetase activity.[1]
Clinical significance
Mutations in this gene have been shown to cause combined malonic and methylmalonic aciduria (CMAMMA).[4] CMAMMA is a condition characterized by high levels of malonic acid and methylmalonic acid, because deficiencies in this gene cause these metabolites to not be broken down. The disease is typically diagnosed by either genetic testing or higher levels of methylmalonic acid than malonic acid, although both are elevated. By calculating the malonic acid to methylmalonic acid ratio in blood plasma, CMAMMA can be distinguished from classic methylmalonic acidemia.[5] The disorder typically presents symptoms early in childhood, first starting with high levels of acid in the blood (ketoacidosis). The disorder can also present as involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), developmental delay, an inability to grow and gain weight at the expected rate (failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected children can even have microcephaly. Other people with CMAMMA do not develop signs and symptoms until adulthood. These individuals usually have neurological problems, such as seizures, loss of memory, a decline in thinking ability, or psychiatric diseases.[1]
References
- ↑ 1.0 1.1 1.2 1.3 "Entrez Gene: Acyl-CoA synthetase family member 3". https://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=retrieve&list_uids=197322.
- ↑ "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research 113 (9): 1043–1053. October 2013. doi:10.1161/CIRCRESAHA.113.301151. PMID 23965338.
- ↑ "Acyl-CoA synthetase family member 3, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB). http://www.heartproteome.org/copa/ProteinInfo.aspx?QType=Protein%20ID&QValue=QQ4G176.[yes|permanent dead link|dead link}}]
- ↑ "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". Journal of Medical Genetics 48 (9): 602–605. September 2011. doi:10.1136/jmedgenet-2011-100230. PMID 21785126.
- ↑ "A New Approach for Fast Metabolic Diagnostics in CMAMMA". JIMD Reports (Berlin, Heidelberg: Springer) 30: 15–22. 2016. doi:10.1007/8904_2016_531. ISBN 978-3-662-53681-0. PMID 26915364.
Further reading
- "Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome". Journal of Lipid Research 48 (12): 2736–2750. December 2007. doi:10.1194/jlr.M700378-JLR200. PMID 17762044.
External links
- Human ACSF3 genome location and ACSF3 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.
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