ACSF3
Identifiers
AliasesACSF3, acyl-CoA synthetase family member 3
External IDsOMIM: 614245 MGI: 2182591 HomoloGene: 14958 GeneCards: ACSF3
Orthologs
SpeciesHumanMouse
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 MbChr 8: 122.78 – 122.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000176715 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000015016 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 3 4 "Entrez Gene: Acyl-CoA synthetase family member 3". Retrieved 2011-12-30.
  6. ↑ Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, et al. (October 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–1053. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475. PMID 23965338.
  7. ↑ "Acyl-CoA synthetase family member 3, mitochondrial". Cardiac Organellar Protein Atlas Knowledgebase (COPaKB).
  8. ↑ Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, et al. (September 2011). "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. doi:10.1136/jmedgenet-2011-100230. PMID 21785126.
  9. ↑ de Sain-van der Velden MG, van der Ham M, Jans JJ, Visser G, Prinsen HC, Verhoeven-Duif NM, et al. (2016). Morava E, Baumgartner M, Patterson M, Shamima R (eds.). "A New Approach for Fast Metabolic Diagnostics in CMAMMA". JIMD Reports. Berlin, Heidelberg: Springer. 30: 15–22. doi:10.1007/8904_2016_531. ISBN 978-3-662-53681-0. PMC 5110436. PMID 26915364.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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