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MT000979

UniProt Annotations

Entry Information

Gene Name	acyl-CoA dehydrogenase family, member 9
Protein Entry	ACAD9_HUMAN
UniProt ID	Q9H845
Species	Human

Comments

Comment type	Description
Cofactor	Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000250};
Disease	Acyl-CoA dehydrogenase family, member 9, deficiency (ACAD9 deficiency) [MIM:611126]: A metabolic disorder with variable manifestations that include dilated cardiomyopathy, liver failure, muscle weakness, neurologic dysfunction, hypoglycemia and Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death). {ECO:0000269\|PubMed:17564966}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Has a dehydrogenase activity on palmitoyl-CoA (C16:0) and stearoyl-CoA (C18:0). It is three times more active on palmitoyl-CoA than on stearoyl-CoA. Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).
Similarity	Belongs to the acyl-CoA dehydrogenase family. {ECO:0000305}.
Subcellular Location	Mitochondrion {ECO:0000250}.
Subunit	Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity). {ECO:0000250}.
Tissue Specificity	Ubiquitously expressed in most normal human tissues and cancer cell lines with high level of expression in heart, skeletal muscles, brain, kidney and liver. {ECO:0000269\|PubMed:12359260}.