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ACSF3
Identifiers
Aliases	ACSF3, acyl-CoA synthetase family member 3
External IDs	OMIM: 614245; MGI: 2182591; HomoloGene: 14958; GeneCards: ACSF3; OMA:ACSF3 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	89,164,121 bp
Gene location (Mouse)
Chr.	Chromosome 8 (mouse)
End	122,817,880 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; granulocyte; ; right adrenal gland; ; sural nerve; ; bone marrow cells; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; right lobe of liver; ; appendix;
	Top expressed in
	Ileal epithelium; ; interventricular septum; ; cardiac muscle tissue of left ventricle; ; right kidney; ; lactiferous gland; ; corneal stroma; ; brown adipose tissue; ; otic vesicle; ; proximal tubule; ; left lobe of liver;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; malonyl-CoA synthetase activity; ligase activity; ATP binding; catalytic activity; acid-thiol ligase activity; very long-chain fatty acid-CoA ligase activity;
Cellular component	mitochondrial matrix; mitochondrion;
Biological process	malonate catabolic process; metabolism; fatty acid biosynthetic process; long-chain fatty-acyl-CoA biosynthetic process; fatty acid metabolic process; lipid metabolism;
	Sources:Amigo / QuickGO
Orthologs
	197322
	257633
	ENSG00000176715
	ENSMUSG00000015016
	Q4G176
	Q3URE1
	NM_001127214; NM_001243279; NM_001284316; NM_174917
	NM_144932
	NP_001120686; NP_001230208; NP_001271245; NP_777577
	NP_659181
	Wikidata
View/Edit Human	View/Edit Mouse

Acyl-CoA synthetase family member 3 is an enzyme that in humans is encoded by the ACSF3 gene.^[5]

Structure

The ACSF3 gene is located on the 16th chromosome, with its specific location being 16q24.3. The gene contains 17 exons.^[5] ASCL4 encodes a 64.1 kDa protein that is composed of 576 amino acids; 20 peptides have been observed through mass spectrometry data.^[6]^[7]

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.^[5]

Clinical significance

Mutations in this gene have been shown to cause combined malonic and methylmalonic aciduria (CMAMMA).^[8] 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.^[9] 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.^[5]