Acyl-CoA synthetase family member 3 is anenzyme that in humans is encoded by theACSF3gene.^[5] The enzyme belongs to theacyl-CoA synthetase family.^[6]

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)[1] Band 16q24.3 Start 89,088,375bp[1] End 89,164,121bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E1 Start 122,775,486bp[2] End 122,817,880bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 197322 257633 Ensembl ENSG00000176715 ENSMUSG00000015016 UniProt Q4G176 Q3URE1 RefSeq (mRNA) NM_001127214 NM_001243279 NM_001284316 NM_174917 NM_144932 RefSeq (protein) NP_001120686 NP_001230208 NP_001271245 NP_777577 NP_659181 Location (UCSC) Chr 16: 89.09 – 89.16 Mb Chr 8: 122.78 – 122.82 Mb PubMed search [3] [4]
Wikidata
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TheACSF3 gene is located on the16th chromosome, with its specific location being 16q24.3. The gene contains 17exons.^[5] ASCL4 encodes a 64.1 kDaprotein that is composed of 576amino acids; 20peptides have been observed throughmass spectrometry data.^[7][8]

This gene encodes a member of theacyl-CoA synthetase family of enzymes that activatefatty acids by catalyzing the formation of athioester linkage betweenfatty acids andcoenzyme A. The encoded protein is localized tomitochondria, has high specificity formalonate andmethylmalonate and possessesmalonyl-CoA synthetase activity.^[5]

Mutations in this gene have been shown to causecombined malonic and methylmalonic aciduria (CMAMMA).^[9] CMAMMA is a condition characterized by high levels ofmalonic acid andmethylmalonic acid, because deficiencies in this gene cause these metabolites to not be broken down. The disease is typically diagnosed by eithergenetic 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 classicmethylmalonic acidemia.^[10] 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 havemicrocephaly. 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]

• HumanACSF3 genome location andACSF3 gene details page in theUCSC Genome Browser.

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.