The ACSF3 gene is located on the 16th chromosome, with its specific location being 16q24.3. The gene contains 17 exons. ASCL4 encodes a 64.1 kDa protein that is composed of 576 amino acids; 20 peptides have been observed through mass spectrometry data.
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.
Mutations in this gene have been shown to cause combined malonic and methylmalonic aciduria. Combined malonic and methylmalonic aciduria (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 in the urine, although both are elevated. 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.
- "Entrez Gene: Acyl-CoA synthetase family member 3". Retrieved 2011-12-30.
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- "Acyl-CoA synthetase family member 3, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
- Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N (September 2011). "Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype". J. Med. Genet. 48 (9): 602–5. doi:10.1136/jmedgenet-2011-100230. PMID 21785126.
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