This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type ... See more...

Aliases for ACAD9 Gene

Aliases for ACAD9 Gene

  • Acyl-CoA Dehydrogenase Family Member 9 2 3 5
  • Acyl-CoA Dehydrogenase Family Member 9, Mitochondrial 3 4
  • Acyl-Coenzyme A Dehydrogenase Family, Member 9 2 3
  • Very-Long-Chain Acyl-CoA Dehydrogenase VLCAD 3
  • Acyl-CoA Dehydrogenase Family, Member 9 2
  • EC 1.3.99.10 54
  • EC 1.3.99.- 4
  • EC 1.3.99 54
  • MC1DN20 3
  • NPD002 3
  • ACAD-9 4

External Ids for ACAD9 Gene

Previous GeneCards Identifiers for ACAD9 Gene

  • GC03P129880
  • GC03P129919
  • GC03P130081
  • GC03P128599
  • GC03P125986
  • GC03P128600
  • GC03P128671
  • GC03P128848
  • GC03P128931
  • GC03P129047
  • GC03P129083
  • GC03P129171
  • GC03P129990
  • GC03P130094
  • GC03P129259
  • GC03P129346
  • GC03P129428
  • GC03P129519
  • GC03P129619
  • GC03P129705
  • GC03P129793
  • GC03P129907

Summaries for ACAD9 Gene

Entrez Gene Summary for ACAD9 Gene

  • This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

GeneCards Summary for ACAD9 Gene

ACAD9 (Acyl-CoA Dehydrogenase Family Member 9) is a Protein Coding gene. Diseases associated with ACAD9 include Mitochondrial Complex I Deficiency, Nuclear Type 20 and Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACADVL.

UniProtKB/Swiss-Prot Summary for ACAD9 Gene

  • Required for mitochondrial complex I assembly (PubMed:20816094, PubMed:24158852). 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. However, it does not play a primary role in long-chain fatty acid oxidation in vivo (PubMed:20816094, PubMed:24158852). Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).

Gene Wiki entry for ACAD9 Gene

Additional gene information for ACAD9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACAD9 Gene

Genomics for ACAD9 Gene

GeneHancer (GH) Regulatory Elements for ACAD9 Gene

Promoters and enhancers for ACAD9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J128877 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 773.3 -0.3 -303 4.4 E2F8 SIN3A SP1 SREBF1 MLX RBPJ POLR2A USF2 ATF1 CREB1 ACAD9 ENSG00000244932 RPL32P3 ISY1 EEFSEC ENSG00000231305 H1FX-AS1 ENSG00000203644 RUVBL1 CNBP
GH03J128897 Promoter 0.3 EPDnew 750.4 +18.1 18127 0.1 ACAD9 piR-31849 piR-56407
GH03J128845 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE 30.3 -33.5 -33471 2 CTCF MLX RBPJ NR2F1 NR2F6 MYC L3MBTL2 MAX RAD21 DACH1 MIR12124-001 MARK2P17 piR-32938 piR-36731 piR-36874 piR-39736 piR-37003 piR-37609-002 lnc-KIAA1257-6 piR-40617
GH03J128854 Promoter/Enhancer 0.9 FANTOM5 Ensembl 36.1 -24.7 -24689 0.4 ZNF280D TRIM24 TRIM28 SKIL CBX1 CBX5 HLTF POLR2A MARK2P6 lnc-KIAA1257-5 piR-34033 piR-43400 piR-34813 piR-43761 piR-35258 piR-44467 piR-46045 piR-49552
GH03J128874 Promoter/Enhancer 1 Ensembl ENCODE 23.3 -4.3 -4272 1.6 CTCF TCF7L2 MYC MAX RAD21 ZNF148 PRDM10 TRIM22 ZNF143 CHD2 ENSG00000287110 lnc-KIAA1257-7 ACAD9 ENSG00000231305 RAB7A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACAD9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACAD9 gene promoter:
  • AP-4
  • c-Myc
  • C/EBPbeta
  • CUTL1
  • Gfi-1
  • HEN1
  • Max1
  • Meis-1
  • Meis-1a

Genomic Locations for ACAD9 Gene

Genomic Locations for ACAD9 Gene
chr3:128,879,490-128,916,067
(GRCh38/hg38)
Size:
36,578 bases
Orientation:
Plus strand
chr3:128,598,333-128,634,910
(GRCh37/hg19)
Size:
36,578 bases
Orientation:
Plus strand

Genomic View for ACAD9 Gene

Genes around ACAD9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAD9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAD9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAD9 Gene

Proteins for ACAD9 Gene

  • Protein details for ACAD9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H845-ACAD9_HUMAN
    Recommended name:
    Acyl-CoA dehydrogenase family member 9, mitochondrial
    Protein Accession:
    Q9H845
    Secondary Accessions:
    • D3DNB8
    • Q8WXX3

    Protein attributes for ACAD9 Gene

    Size:
    621 amino acids
    Molecular mass:
    68760 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Part of the mitochondrial complex I assembly (MCIA) complex. The complex comprises at least TMEM126B, NDUFAF1, ECSIT, and ACAD9 (By similarity). Interacts with NDUFAF1 and ECSIT (PubMed:20816094).

neXtProt entry for ACAD9 Gene

Selected DME Specific Peptides for ACAD9 Gene

Q9H845:
  • VLSRASRS
  • AAFCLTEP
  • LIQEKFA
  • IFTVFAKT
  • RGSNTCE

Post-translational modifications for ACAD9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for ACAD9 Gene

Gene Families for ACAD9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ACAD9 Gene

GenScript: Design optimal peptide antigens:
  • Acyl-CoA dehydrogenase family member 9, mitochondrial (ACAD9_HUMAN)
  • ACAD9 protein (Q9BUX5_HUMAN)
  • cDNA FLJ53144, highly similar to Acyl-CoA dehydrogenase family member 9, mitochondrial (EC 1.3.99.-) (Q9H9W4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H845

UniProtKB/Swiss-Prot:

ACAD9_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACAD9: view

Function for ACAD9 Gene

Molecular function for ACAD9 Gene

UniProtKB/Swiss-Prot Function:
Required for mitochondrial complex I assembly (PubMed:20816094, PubMed:24158852). 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. However, it does not play a primary role in long-chain fatty acid oxidation in vivo (PubMed:20816094, PubMed:24158852). Has little activity on octanoyl-CoA (C8:0), butyryl-CoA (C4:0) or isovaleryl-CoA (5:0).

Enzyme Numbers (IUBMB) for ACAD9 Gene

Phenotypes From GWAS Catalog for ACAD9 Gene

Gene Ontology (GO) - Molecular Function for ACAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000062 fatty-acyl-CoA binding IBA 21873635
GO:0003995 acyl-CoA dehydrogenase activity IEA --
GO:0004466 long-chain-acyl-CoA dehydrogenase activity IDA 16020546
GO:0005515 protein binding IPI 20816094
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ACAD9: view
genes like me logo Genes that share phenotypes with ACAD9: view

Human Phenotype Ontology for ACAD9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ACAD9 Gene

miRTarBase miRNAs that target ACAD9

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAD9

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACAD9 Gene

Localization for ACAD9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAD9 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACAD9 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21237683
GO:0005739 mitochondrion IDA 16020546
GO:0005743 mitochondrial inner membrane TAS --
GO:0030425 dendrite IDA 21237683
GO:0031966 mitochondrial membrane IDA 16020546
genes like me logo Genes that share ontologies with ACAD9: view

Pathways & Interactions for ACAD9 Gene

genes like me logo Genes that share pathways with ACAD9: view

Gene Ontology (GO) - Biological Process for ACAD9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001676 long-chain fatty acid metabolic process IDA 16020546
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0051791 medium-chain fatty acid metabolic process IDA 16020546
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ACAD9: view

No data available for SIGNOR curated interactions for ACAD9 Gene

Drugs & Compounds for ACAD9 Gene

(4) Drugs for ACAD9 Gene - From: ClinicalTrials and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Propanoyl-CoA Experimental Pharma 0
pyruvate Pharma 78

(32) Additional Compounds for ACAD9 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with ACAD9: view

Transcripts for ACAD9 Gene

mRNA/cDNA for ACAD9 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAD9

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACAD9 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: - - - -
SP2: -
SP3: - - - - -
SP4: - - - - -
SP5: -
SP6:
SP7: - - -
SP8: - - - - -
SP9: - -
SP10: - - - - - -
SP11: - - -
SP12: - -
SP13: - - -

Relevant External Links for ACAD9 Gene

GeneLoc Exon Structure for
ACAD9
ECgene alternative splicing isoforms for
ACAD9

Expression for ACAD9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACAD9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ACAD9 Gene

This gene is overexpressed in Bone (8.6), Peripheral blood mononuclear cells (7.9), and Heart (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACAD9 Gene



Protein tissue co-expression partners for ACAD9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACAD9 Gene:

ACAD9

SOURCE GeneReport for Unigene cluster for ACAD9 Gene:

Hs.567482

mRNA Expression by UniProt/SwissProt for ACAD9 Gene:

Q9H845-ACAD9_HUMAN
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.

Evidence on tissue expression from TISSUES for ACAD9 Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Lung(4.4)
  • Blood(4.2)
  • Lymph node(4.2)
  • Spleen(4.2)
  • Heart(2.3)
  • Intestine(2.3)
  • Muscle(2.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAD9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with ACAD9: view

No data available for mRNA differential expression in normal tissues for ACAD9 Gene

Orthologs for ACAD9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACAD9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACAD9 33 32
  • 99.73 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACAD9 33 32
  • 86.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACAD9 33 32
  • 84.49 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acad9 17 33 32
  • 84.01 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ACAD9 33
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acad9 32
  • 83.84 (n)
oppossum
(Monodelphis domestica)
Mammalia ACAD9 33
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAD9 33 32
  • 71.07 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAD9 33
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acad9 32
  • 71.12 (n)
Str.15930 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.6057 32
zebrafish
(Danio rerio)
Actinopterygii acad9 33 32
  • 68.52 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8949 32
Species where no ortholog for ACAD9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACAD9 Gene

ENSEMBL:
Gene Tree for ACAD9 (if available)
TreeFam:
Gene Tree for ACAD9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACAD9: view image

Paralogs for ACAD9 Gene

(7) SIMAP similar genes for ACAD9 Gene using alignment to 9 proteins:

  • ACAD9_HUMAN
  • D6R9Z3_HUMAN
  • D6RCD8_HUMAN
  • D6RDK9_HUMAN
  • D6RGK6_HUMAN
  • D6RJA8_HUMAN
  • H0Y8Z9_HUMAN
  • Q9BUX5_HUMAN
  • Q9H9W4_HUMAN
genes like me logo Genes that share paralogs with ACAD9: view

Variants for ACAD9 Gene

Sequence variations from dbSNP and Humsavar for ACAD9 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1057518752 pathogenic, Acyl-CoA dehydrogenase family, member 9, deficiency of 128,910,144(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs114763241 likely-benign, Acyl-CoA dehydrogenase family, member 9, deficiency of 128,912,938(+) T/G 3_prime_UTR_variant, non_coding_transcript_variant
rs115532916 benign, pathogenic, conflicting-interpretations-of-pathogenicity, not specified, Acyl-CoA dehydrogenase family, member 9, deficiency of, not provided, Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] 128,904,079(+) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs116106966 likely-benign, Acyl-CoA dehydrogenase family, member 9, deficiency of 128,912,675(+) C/A/G/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1179305061 uncertain-significance, Acyl-CoA dehydrogenase family, member 9, deficiency of 128,895,418(+) T/A splice_donor_variant

Variation tolerance for ACAD9 Gene

Residual Variation Intolerance Score: 24.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.84; 48.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACAD9 Gene

Human Gene Mutation Database (HGMD)
ACAD9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAD9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ACAD9 Gene

Disorders for ACAD9 Gene

MalaCards: The human disease database

(7) MalaCards diseases for ACAD9 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACAD9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACAD9_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126]: An autosomal recessive metabolic disorder associated with mitochondrial complex I deficiency, resulting in multisystemic and variable manifestations. Clinical features include infantile onset of acute metabolic acidosis, Reye-like episodes (brain edema and vomiting that may rapidly progress to seizures, coma and death), exercise intolerance, hypertrophic cardiomyopathy, liver failure, muscle weakness, and neurologic dysfunction. {ECO:0000269 PubMed:17564966, ECO:0000269 PubMed:20816094, ECO:0000269 PubMed:20929961, ECO:0000269 PubMed:21057504, ECO:0000269 PubMed:22499348, ECO:0000269 PubMed:23836383, ECO:0000269 PubMed:23996478, ECO:0000269 PubMed:26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACAD9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACAD9: view

No data available for Genatlas for ACAD9 Gene

Publications for ACAD9 Gene

  1. Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family. (PMID: 12359260) Zhang J … Cao X (Biochemical and biophysical research communications 2002) 2 3 4 23 56
  2. Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. (PMID: 20816094) Nouws J … Vogel RO (Cell metabolism 2010) 2 3 4 56
  3. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. (PMID: 21057504) Haack TB … Prokisch H (Nature genetics 2010) 2 3 4 56
  4. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. (PMID: 17564966) He M … Vockley J (American journal of human genetics 2007) 3 4 23 56
  5. ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies. (PMID: 24158852) Nouws J … Houten SM (Human molecular genetics 2014) 3 4 56

Products for ACAD9 Gene

Sources for ACAD9 Gene