NP_001120686.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
acyl-CoA synthetase family member 3, mitochondrial isoform 1
NCBI Official Synonym Full Names
acyl-CoA synthetase family member 3
NCBI Protein Information
acyl-CoA synthetase family member 3, mitochondrial
UniProt Protein Name
Acyl-CoA synthetase family member 3, mitochondrial
UniProt Entry Name
ACSF3_HUMAN
NCBI Summary for ACSF3
This gene encodes a member of the acyl-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. Mutations in this gene are a cause of combined malonic and methylmalonic aciduria. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Sep 2013]
UniProt Comments for ACSF3
ACSF3: Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates. Defects in ACSF3 are the cause of combined malonic and methylmalonic aciduria (CMAMMA). A metabolic disease characterized by malonic and methylmalonic aciduria, with urinary excretion of much larger amounts of methylmalonic acid than malonic acid, in the presence of normal malonyl-CoA decarboxylase activity. Clinical features include coma, ketoacidosis, hypoglycemia, failure to thrive, microcephaly, dystonia, axial hypotonia and/or developmental delay, and neurologic manifestations including seizures, psychiatric disease and/or cognitive decline. Belongs to the ATP-dependent AMP-binding enzyme family.
Protein type: Ligase; EC 6.2.1.-; EC 6.-.-.-
Chromosomal Location of Human Ortholog: 16q24.3
Cellular Component: mitochondrion
Molecular Function: acid-thiol ligase activity; ATP binding
Biological Process: fatty acid metabolic process; fatty acid biosynthetic process
Disease: Combined Malonic And Methylmalonic Aciduria
Research Articles on ACSF3
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Pathways associated with anti-ACSF3 antibody
Diseases associated with anti-ACSF3 antibody
Organs/Tissues associated with anti-ACSF3 antibody
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