ACSF3

ACSF3
Identificadores
Símbolo ACSF3
IDs externos OMIM: 614245 HomoloGene: 14958 GeneCards: ACSF3 Gene
Número EC 6.2.1.-
Ortólogos
Espécies Humano Rato
Entrez 197322 257633
Ensembl ENSG00000176715 ENSMUSG00000015016
UniProt Q4G176 Q3URE1
RefSeq (mRNA) NM_001127214.2 NM_144932.3
RefSeq (proteína) NP_001120686.1 NP_659181.2
Localização (UCSC) Chr 16:
89.15 – 89.22 Mb		 Chr 8:
122.78 – 122.82 Mb
Busca PubMed [1] [2]

ACSF3 (do inglês: Acyl-CoA synthetase family member 3) é uma enzima que nos humanos é codificada pelo gene com o mesmo nome.[1]

Função

Este gene codifica um membro da família enzimática da Acetil-CoA sintetase que activam os ácidos gordos através da catalização da formação de uma ligação tioéster entre ácidos gordos e a coenzima A. A proteína codificada está localizada na mitocôndria, tem uma especificidade elevada para o malonato e metilmalonato e possui actividade de malonil-CoA sintetase.[1]

Relevância clínica

Mutações neste gene podem causar acidúria malónica e metilmalónica combinada (CMAMMA).[2]

Referências

  1. ↑ a b «Entrez Gene: Acyl-CoA synthetase family member 3». Consultado em 30 de dezembro de 2011 
  2. ↑ Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N (setembro de 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. PMID 21785126. doi:10.1136/jmedgenet-2011-100230 

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