ACSF3

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ACSF3
Identifiers
Aliases ACSF3, acyl-CoA synthetase family member 3
External IDs MGI: 2182591 HomoloGene: 14958 GeneCards: ACSF3
Gene location (Human)
Chromosome 16 (human)
Chr. Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for ACSF3
Genomic location for ACSF3
Band 16q24.3 Start 89,088,375 bp[1]
End 89,155,846 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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
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[edit]

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[edit]

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[edit]

Mutations in this gene have been shown to cause combined malonic and methylmalonic aciduria.[8] 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.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000176715 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015016 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ a b c d "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, Deng N, Kim AK, Choi JH, Zelaya I, Liem D, Meyer D, Odeberg J, Fang C, Lu HJ, Xu T, Weiss J, Duan H, Uhlen M, Yates JR, Apweiler R, Ge J, Hermjakob H, Ping P (Oct 2013). "Integration of cardiac proteome biology and medicine by a specialized knowledgebase". Circulation Research. 113 (9): 1043–53. doi:10.1161/CIRCRESAHA.113.301151. PMC 4076475Freely accessible. 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, 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. 

External links[edit]

Further reading[edit]

  • Watkins, P. A.; Maiguel, D.; Jia, Z.; Pevsner, J. (2007). "Evidence for 26 distinct acyl-coenzyme a synthetase genes in the human genome". The Journal of Lipid Research. 48 (12): 2736–2750. doi:10.1194/jlr.M700378-JLR200. PMID 17762044. 

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