ACAD9 (acyl-CoA dehydrogenase family member 9)

2014-11-01  

Identity

HGNC
LOCATION
3q21.3
LOCUSID
ALIAS
MC1DN20,NPD002
FUSION GENES

Other Information

Locus ID:

NCBI: 28976
MIM: 611103
HGNC: 21497
Ensembl: ENSG00000177646

Variants:

dbSNP: 28976
ClinVar: 28976
TCGA: ENSG00000177646
COSMIC: ACAD9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177646ENST00000308982Q9H845
ENSG00000177646ENST00000505192D6RGK6
ENSG00000177646ENST00000505867D6RDK9
ENSG00000177646ENST00000508971H0Y8Z9
ENSG00000177646ENST00000511227D6RDK9
ENSG00000177646ENST00000512801D6RJA8
ENSG00000177646ENST00000514336D6RCD8
ENSG00000177646ENST00000514643D6R9Z3
ENSG00000177646ENST00000515429D6RDK9

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Complex I biogenesisREACTOMER-HSA-6799198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222779672012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.141
210575042010Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.73
208160942010Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.54
160205462005Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.34
175649662007A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.33
209299612011Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene.23
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
257214012015Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.12
129714262003High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease.10

Citation

Dessen P

ACAD9 (acyl-CoA dehydrogenase family member 9)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60071/acad9