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MT001585

UniProt Annotations

Entry Information

Gene Name	acyl-CoA synthetase family member 3
Protein Entry	ACSF3_HUMAN
UniProt ID	Q4G176
Species	Human

Comments

Comment type	Description
Disease	Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]: 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. {ECO:0000269\|PubMed:21841779}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	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. {ECO:0000269\|PubMed:17762044, ECO:0000269\|PubMed:21841779}.
Sequence Caution	Sequence=AAH72391.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
Similarity	Belongs to the ATP-dependent AMP-binding enzyme family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000269\|PubMed:21841779}.