Identity
HGNC
LOCATION
3q21.3
LOCUSID
ALIAS
MC1DN20,NPD002
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 28976
MIM: 611103
HGNC: 21497
Ensembl: ENSG00000177646
Variants:
dbSNP: 28976
ClinVar: 28976
TCGA: ENSG00000177646
COSMIC: ACAD9
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37388727 | 2023 | Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A). | 0 |
| 37388727 | 2023 | Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A). | 0 |
| 29348607 | 2018 | Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency. | 28 |
| 29348607 | 2018 | Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency. | 28 |
| 26669660 | 2016 | High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. | 12 |
| 26826406 | 2016 | Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules. | 13 |
| 27233227 | 2016 | Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients. | 10 |
| 26669660 | 2016 | High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. | 12 |
| 26826406 | 2016 | Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules. | 13 |
| 27233227 | 2016 | Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients. | 10 |
| 25721401 | 2015 | Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. | 24 |
| 25721401 | 2015 | Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. | 24 |
| 24158852 | 2014 | ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. | 22 |
| 24158852 | 2014 | ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. | 22 |
| 22277967 | 2012 | Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. | 201 |
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-(acyl-coa-dehydrogenase-family-member-9)
