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Aliases for ACADSB Gene

Aliases for ACADSB Gene

  • Acyl-CoA Dehydrogenase Short/Branched Chain 2 3 5
  • Acyl-Coenzyme A Dehydrogenase, Short/Branched Chain 2 3
  • 2-Methyl Branched Chain Acyl-CoA Dehydrogenase 3 4
  • 2-Methylbutyryl-Coenzyme A Dehydrogenase 3 4
  • 2-MEBCAD 3 4
  • SBCAD 3 4
  • Short/Branched Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3
  • 2-Methylbutyryl-CoA Dehydrogenase 4
  • EC 4
  • ACAD7 3

External Ids for ACADSB Gene

Previous GeneCards Identifiers for ACADSB Gene

  • GC10P123785
  • GC10P124018
  • GC10P124775
  • GC10P124308
  • GC10P124758
  • GC10P118386

Summaries for ACADSB Gene

Entrez Gene Summary for ACADSB Gene

  • Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids. Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a mature peptide of approximately 43.7-KDa. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACADSB Gene

ACADSB (Acyl-CoA Dehydrogenase Short/Branched Chain) is a Protein Coding gene. Diseases associated with ACADSB include 2-Methylbutyryl-Coa Dehydrogenase Deficiency and Isovaleric Acidemia. Among its related pathways are Metabolism and Valproic Acid Pathway, Pharmacokinetics. 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 ACADS.

UniProtKB/Swiss-Prot for ACADSB Gene

  • Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent.

Additional gene information for ACADSB Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADSB Gene

Genomics for ACADSB Gene

GeneHancer (GH) Regulatory Elements for ACADSB Gene

Promoters and enhancers for ACADSB Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J123007 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 686.7 -0.3 -331 2.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 ACADSB IKZF5 BTBD16 GC10M122775
GH10J122979 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 23.4 -28.4 -28353 1.7 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 ZNF207 PSTK ACADSB BUB3 IKZF5 BTBD16 GC10M122775 C10orf88
GH10J123019 Enhancer 0.9 ENCODE 22.4 +11.3 11292 1 FOXA2 ARID4B DNMT3B ZNF48 RARA ETS1 YY1 SLC30A9 ZNF614 EGR1 ACADSB HMX3 GC10P123103
GH10J122847 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 15.8 -160.4 -160440 2.1 POLR2A SCRT2 CEBPB CBFA2T3 CUZD1 ACADSB FAM24B LOC399815 IKZF5 FAM24B-CUZD1 DMBT1P1 GC10M122775
GH10J122849 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 8.9 -155.4 -155366 7.7 MEIS2 ZNF768 JUN INSM2 ZIC2 ZNF335 ZFHX2 ZNF316 POLR2A SCRT2 FAM24B CUZD1 C10orf88 LOC399815 IKZF5 ACADSB FAM24B-CUZD1 GC10M122775
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACADSB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACADSB gene promoter:
  • GATA-1
  • CBF-A
  • HFH-1
  • CBF(2)
  • CBF-B
  • CP1A
  • NF-Y
  • NF-YA
  • NF-YB
  • SEF-1 (1)

Genomic Locations for ACADSB Gene

Genomic Locations for ACADSB Gene
49,399 bases
Plus strand
49,399 bases
Plus strand

Genomic View for ACADSB Gene

Genes around ACADSB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ACADSB Gene

Proteins for ACADSB Gene

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

    Protein Symbol:
    Recommended name:
    Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B4DQ51
    • Q5SQN6
    • Q96CX7

    Protein attributes for ACADSB Gene

    432 amino acids
    Molecular mass:
    47485 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for ACADSB Gene

    Alternative splice isoforms for ACADSB Gene


neXtProt entry for ACADSB Gene

Post-translational modifications for ACADSB Gene

  • Ubiquitination at posLast=7070
  • Modification sites at PhosphoSitePlus

Other Protein References for ACADSB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ACADSB Gene

Domains & Families for ACADSB Gene

Gene Families for ACADSB Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



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

Function for ACADSB Gene

Molecular function for ACADSB Gene

UniProtKB/Swiss-Prot Function:
Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA, isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid in the development of toxicity of this agent.
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor.
UniProtKB/Swiss-Prot CatalyticActivity:
2-methylbutanoyl-CoA + electron-transfer flavoprotein = (E)-2-methylbut-2-enoyl-CoA + reduced electron-transfer flavoprotein + H(+).
GENATLAS Biochemistry:
acyl-CoA dehydrogenase,short branched chain,mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACADSB Gene

Phenotypes From GWAS Catalog for ACADSB Gene

Gene Ontology (GO) - Molecular Function for ACADSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity EXP 10832746
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with ACADSB: view
genes like me logo Genes that share phenotypes with ACADSB: view

Human Phenotype Ontology for ACADSB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

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

Localization for ACADSB Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADSB Gene

Mitochondrion matrix.

Subcellular locations from

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 ACADSB gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACADSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,TAS --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome HDA --
genes like me logo Genes that share ontologies with ACADSB: view

Pathways & Interactions for ACADSB Gene

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

Pathways by source for ACADSB Gene

UniProtKB/Swiss-Prot P45954-ACDSB_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ACADSB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA,TAS --
GO:0008152 metabolic process IEA --
GO:0009083 branched-chain amino acid catabolic process TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with ACADSB: view

No data available for SIGNOR curated interactions for ACADSB Gene

Drugs & Compounds for ACADSB Gene

(7) Drugs for ACADSB Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Valproic Acid Approved, Investigational Pharma inhibitor, Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 333
L-Isoleucine Approved, Investigational Nutra Target 0
FAD Approved Pharma 0
Hexanoyl-CoA Experimental Pharma 0
Methacrylyl-CoA Experimental Pharma 0

(38) Additional Compounds for ACADSB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (S)-2-Methylbutyryl-CoA
  • (S)-2-Methylbutyryl-coenzyme A
  • 2-Methylbutanoyl-CoA
  • 2-Methylbutanoyl-coenzyme A
  • 2-Methylbutyryl-coenzyme A
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-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-)
  • (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
genes like me logo Genes that share compounds with ACADSB: view

Transcripts for ACADSB Gene


Unigene Clusters for ACADSB Gene

Acyl-CoA dehydrogenase, short/branched chain:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for ACADSB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ACADSB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACADSB Gene

This gene is overexpressed in Liver (x10.1).

Protein differential expression in normal tissues from HIPED for ACADSB Gene

This gene is overexpressed in Fetal Liver (18.2), Liver (15.5), and Kidney (7.6).

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

Protein tissue co-expression partners for ACADSB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACADSB Gene:


SOURCE GeneReport for Unigene cluster for ACADSB Gene:


mRNA Expression by UniProt/SwissProt for ACADSB Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ACADSB Gene

  • Liver(4.5)
  • Muscle(4.3)
  • Kidney(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • neck
  • skull
  • bronchus
  • diaphragm
  • heart
  • lung
  • trachea
  • adrenal gland
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ACADSB: view

Orthologs for ACADSB Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ACADSB Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ACADSB 34 33
  • 95.9 (n)
(Canis familiaris)
Mammalia ACADSB 34 33
  • 84.49 (n)
(Bos Taurus)
Mammalia ACADSB 34 33
  • 84.26 (n)
(Rattus norvegicus)
Mammalia Acadsb 33
  • 83.86 (n)
(Mus musculus)
Mammalia Acadsb 16 34 33
  • 82.73 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
-- 34
  • 69 (a)
(Monodelphis domestica)
Mammalia ACADSB 34
  • 79 (a)
(Gallus gallus)
Aves ACADSB 34 33
  • 73.02 (n)
(Anolis carolinensis)
Reptilia ACADSB 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia acadsb 33
  • 69.67 (n)
Str.1713 33
(Danio rerio)
Actinopterygii acadsb 34
  • 67 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3902 34 35 33
  • 60.26 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009783 33
  • 57.48 (n)
(Caenorhabditis elegans)
Secernentea acdh-3 34 33
  • 62.64 (n)
K06A5.6 35
  • 62 (a)
acdh-4 34
  • 59 (a)
T10E9.9 35
  • 54 (a)
acdh-1 34
  • 52 (a)
C17C3.12b 35
  • 49 (a)
C17C3.12c 35
  • 49 (a)
C17C3.12a 35
  • 47 (a)
acdh-2 34
  • 45 (a)
C02D5.1 35
  • 30 (a)
C37A2.3 35
  • 29 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06543 33
  • 52.98 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5588 34
  • 27 (a)
Species where no ortholog for ACADSB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for ACADSB Gene

Gene Tree for ACADSB (if available)
Gene Tree for ACADSB (if available)
Evolutionary constrained regions (ECRs) for ACADSB: view image

Paralogs for ACADSB Gene

Paralogs for ACADSB Gene

(9) SIMAP similar genes for ACADSB Gene using alignment to 3 proteins:

  • B4DQ51_HUMAN
  • H0Y6T4_HUMAN
genes like me logo Genes that share paralogs with ACADSB: view

Variants for ACADSB Gene

Sequence variations from dbSNP and Humsavar for ACADSB Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1026554565 uncertain-significance, Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,054,088(+) G/A 3_prime_UTR_variant
rs1048276369 uncertain-significance, Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,055,273(+) C/T 3_prime_UTR_variant
rs10902868 benign, Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,055,633(+) C/G 3_prime_UTR_variant
rs11248371 likely-benign, Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,054,965(+) A/T 3_prime_UTR_variant
rs11307362 likely-benign, uncertain-significance, Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,053,170(+) TTTTTTTTTTTT/TTTTTTTTTT/TTTTTTTTTTT/TTTTTTTTTTTTT intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACADSB Gene

Variant ID Type Subtype PubMed ID
esv2674518 CNV deletion 23128226
nsv7586 CNV insertion 18451855
nsv832010 CNV gain 17160897

Variation tolerance for ACADSB Gene

Residual Variation Intolerance Score: 69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.14; 75.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACADSB Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADSB Gene

Disorders for ACADSB Gene

MalaCards: The human disease database

(6) MalaCards diseases for ACADSB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
2-methylbutyryl-coa dehydrogenase deficiency
  • 2-methylbutyryl glycinuria
isovaleric acidemia
  • iva
acyl-coa dehydrogenase, short-chain, deficiency of
  • acadsd
3-methylcrotonyl-coa carboxylase deficiency
  • 3-methylcrotonylglycinuria
alpha-methylacetoacetic aciduria
  • 2-methyl-3-hydroxybutyric acidemia
- elite association - COSMIC cancer census association via MalaCards


  • Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) [MIM:610006]: Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. {ECO:0000269 PubMed:10832746, ECO:0000269 PubMed:16317551}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACADSB

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

No data available for Genatlas for ACADSB Gene

Publications for ACADSB Gene

  1. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. (PMID: 16317551) Madsen PP … Andresen BS (Human genetics 2006) 3 4 25 58
  2. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. (PMID: 11013134) Andresen BS … Skovby F (American journal of human genetics 2000) 3 4 22 58
  3. Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. (PMID: 7759115) Arden KC … Rozen R (Genomics 1995) 2 3 22 58
  4. Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. (PMID: 7698750) Rozen R … Fournier B (Genomics 1994) 2 3 4 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for ACADSB Gene

Sources for ACADSB Gene

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