ACSF3

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Acyl-CoA synthetase family member 3
Identifiers
Symbol ACSF3
External IDs OMIM614245 HomoloGene14958 GeneCards: ACSF3 Gene
EC number 6.2.1.-
Orthologs
Species Human Mouse
Entrez 197322 257633
Ensembl ENSG00000176715 ENSMUSG00000015016
UniProt Q4G176 Q3URE1
RefSeq (mRNA) NM_001127214 NM_144932
RefSeq (protein) NP_001120686 NP_659181
Location (UCSC) Chr 16:
89.15 – 89.22 Mb
Chr 8:
122.78 – 122.82 Mb
PubMed search [1] [2]

Acyl-CoA synthetase family member 3 is an enzyme that in humans is encoded by the ACSF3 gene.[1]

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.[1]

Clinical relevance[edit]

Mutations in this gene have been shown to cause combined malonic and methylmalonic aciduria.[2]

References[edit]

  1. ^ a b "Entrez Gene: Acyl-CoA synthetase family member 3". Retrieved 2011-12-30. 
  2. ^ 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. 

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.  edit

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