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 ... See more...

Aliases for ACADSB Gene

Aliases for ACADSB Gene

  • Acyl-CoA Dehydrogenase Short/Branched Chain 2 3 5
  • Short/Branched Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3 4
  • 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
  • 2-Methylbutyryl-CoA Dehydrogenase 4
  • EC 1.3.8.5 4
  • EC 1.3.99 54
  • 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 Acyl-Coa Dehydrogenase Deficiency. Among its related pathways are Valine, leucine and isoleucine degradation and Fatty Acyl-CoA Biosynthesis. 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 Summary 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 , Rfam classification 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
Score
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 EPDnew Ensembl ENCODE CraniofacialAtlas 786.6 -0.2 -212 3.4 FOXK2 ZNF785 SIN3A SP1 MLX FOXA1 SMARCE1 RBPJ POLR2A USF2 ACADSB IKZF5 lnc-IKZF5-1 BUB3 BTBD16 C10orf88
GH10J123010 Promoter 0.3 Ensembl 761 +2.0 1988 0.2 ACADSB piR-47628-022
GH10J122979 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 23.4 -28.3 -28312 2 ZBTB40 SP1 CTCF RBPJ POLR2A ATF1 CREB1 HCFC1 ZNF362 MYC PSTK BUB3 ACADSB IKZF5 C10orf88 BTBD16 lnc-IKZF5-1
GH10J123019 Enhancer 1 Ensembl ENCODE 22.4 +11.2 11241 1.6 FOXA1 RBPJ NR2F6 ATF1 MIXL1 HLF RAD21 ZNF652 RERE SP1 ACADSB HMX3 piR-33270-006 piR-35564-017
GH10J122847 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE dbSUPER 15.8 -156.3 -156301 10.4 POLR2A MAFK ZIC2 CEBPB ZNF629 ZNF585B JUN ZNF316 NFE2 JUND FAM24B lnc-FAM24A-1 CUZD1 C10orf88 ACADSB ENSG00000255624 IKZF5 ENSG00000286088 FAM24B-CUZD1
- 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:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • GATA-1
  • HFH-1
  • NF-Y
  • NF-YA
  • NF-YB
  • SEF-1 (1)

Genomic Locations for ACADSB Gene

Genomic Locations for ACADSB Gene
chr10:123,008,913-123,058,311
(GRCh38/hg38)
Size:
49,399 bases
Orientation:
Plus strand
chr10:124,768,429-124,817,827
(GRCh37/hg19)
Size:
49,399 bases
Orientation:
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:
    P45954-ACDSB_HUMAN
    Recommended name:
    Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P45954
    Secondary Accessions:
    • B4DQ51
    • Q5SQN6
    • Q96CX7

    Protein attributes for ACADSB Gene

    Size:
    432 amino acids
    Molecular mass:
    47485 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for ACADSB Gene

Selected DME Specific Peptides for ACADSB Gene

P45954:
  • FDFQGLQHQVA
  • AQGCFDYTIPYIKER
  • RLLTYNAAR
  • SKMEKSVIQGLFQQGLMGIE
  • TSKCIEWMGGVGYTK
  • KEASMAK
  • IEELAKVD
  • GHGYKYAIGSLNEGRIGIAAQMLG
  • FRDAKIGTIYEG

Post-translational modifications for ACADSB Gene

  • Ubiquitination at Lys70 and Lys284
  • Modification sites at PhosphoSitePlus

Other Protein References for ACADSB Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACADSB Gene

Gene Families for ACADSB Gene

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

Suggested Antigen Peptide Sequences for ACADSB Gene

GenScript: Design optimal peptide antigens:
  • 2-methylbutyryl-coenzyme A dehydrogenase (ACDSB_HUMAN)
  • cDNA FLJ57418, highly similar to Short/branched chain specific acyl-CoAdehydrogenase, mitochondrial (EC 1.3.99.-) (B4DQ51_HUMAN)
  • cDNA, FLJ94986, Homo sapiens acyl-Coenzyme A dehydrogenase, short/branched chain(ACADSB), nuclear gene encoding mitochondrial protein, mRNA (Q5SQN6_HUMAN)
  • Acyl-Coenzyme A dehydrogenase, short/branched chain (Q5SQN7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P45954

UniProtKB/Swiss-Prot:

ACDSB_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 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:
Reaction=A + a 2,3-saturated acyl-CoA = a 2,3-dehydroacyl-CoA + AH2; Xref=Rhea:RHEA:48608, ChEBI:CHEBI:13193, ChEBI:CHEBI:17499, ChEBI:CHEBI:60015, ChEBI:CHEBI:65111;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbutenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43780, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57336, ChEBI:CHEBI:57337, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; EC=1.3.8.5;.
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 IEA --
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

CRISPR 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

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 ACADSB gene
Compartment Confidence
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 TAS,IDA --
GO:0005759 mitochondrial matrix TAS --
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: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

(6) 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 Target, inhibitor HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 352
Isoleucine Approved, Investigational Nutra Target 28
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
2-methylbutyryl-coa
  • (S)-2-Methylbutyryl-CoA
  • (S)-2-Methylbutyryl-coenzyme A
  • 2-Methylbutanoyl-CoA
  • 2-Methylbutanoyl-coenzyme A
  • 2-Methylbutyryl-coenzyme A
6712-02-3
(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
genes like me logo Genes that share compounds with ACADSB: view

Transcripts for ACADSB Gene

mRNA/cDNA for ACADSB Gene

CRISPR Products

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
ACADSB
ECgene alternative splicing isoforms for
ACADSB

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:

ACADSB

SOURCE GeneReport for Unigene cluster for ACADSB Gene:

Hs.81934

mRNA Expression by UniProt/SwissProt for ACADSB Gene:

P45954-ACDSB_HUMAN
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
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • neck
  • skull
Thorax:
  • bronchus
  • diaphragm
  • heart
  • lung
  • trachea
Abdomen:
  • adrenal gland
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia ACADSB 33 32
  • 95.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACADSB 33 32
  • 84.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACADSB 33 32
  • 84.26 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acadsb 32
  • 83.86 (n)
mouse
(Mus musculus)
Mammalia Acadsb 17 33 32
  • 82.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 81 (a)
OneToMany
-- 33
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ACADSB 33
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACADSB 33 32
  • 73.02 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACADSB 33
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acadsb 32
  • 69.67 (n)
Str.1713 32
zebrafish
(Danio rerio)
Actinopterygii acadsb 33
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG3902 33 34 32
  • 60.26 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009783 32
  • 57.48 (n)
worm
(Caenorhabditis elegans)
Secernentea acdh-3 33 32
  • 62.64 (n)
OneToMany
K06A5.6 34
  • 62 (a)
acdh-4 33
  • 59 (a)
OneToMany
T10E9.9 34
  • 54 (a)
acdh-1 33
  • 52 (a)
OneToMany
C17C3.12b 34
  • 49 (a)
C17C3.12c 34
  • 49 (a)
C17C3.12a 34
  • 47 (a)
acdh-2 33
  • 45 (a)
OneToMany
C02D5.1 34
  • 30 (a)
C37A2.3 34
  • 29 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06543 32
  • 52.98 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5588 33
  • 27 (a)
ManyToMany
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

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

Paralogs for ACADSB Gene

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

  • ACDSB_HUMAN
  • 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
rs10902868 benign, Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,055,633(+) C/G/T 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
rs1131430 likely-benign, Deficiency of 2-methylbutyryl-CoA dehydrogenase, - 123,047,254(+) A/G coding_sequence_variant, missense_variant
rs1140591 benign, Deficiency of 2-methylbutyryl-CoA dehydrogenase 123,041,337(+) C/A/G/T coding_sequence_variant, missense_variant, synonymous_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)
ACADSB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACADSB

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

Disorders for ACADSB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
2-methylbutyryl-coa dehydrogenase deficiency
  • 2-methylbutyryl glycinuria
acyl-coa dehydrogenase deficiency
isovaleric acidemia
  • iva
alpha-methylacetoacetic aciduria
  • 2-methyl-3-hydroxybutyric acidemia
propionic acidemia
  • propionyl-coa carboxylase deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACDSB_HUMAN
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 26 56
  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 23 56
  3. Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. (PMID: 7759115) Arden KC … Rozen R (Genomics 1995) 2 3 23 56
  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 56
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56

Products for ACADSB Gene

Sources for ACADSB Gene