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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACADSB Gene

protein-coding   GIFtS: 67
GCID: GC10P124758

Acyl-CoA Dehydrogenase, Short/Branched Chain

(Previous names: acyl-Coenzyme A dehydrogenase, short/branched chain)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Acyl-CoA Dehydrogenase, Short/Branched Chain1 2     ACAD72
SBCAD2 3 5     Short/Branched Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial2
Acyl-Coenzyme A Dehydrogenase, Short/Branched Chain1 2     2-Methylbutyryl-CoA Dehydrogenase3
2-MEBCAD2 3     EC 1.3.8.53
2-Methyl Branched Chain Acyl-CoA Dehydrogenase2 3     EC 1.3.998
2-Methylbutyryl-Coenzyme A Dehydrogenase2 3     

External Ids:    HGNC: 911   Entrez Gene: 362   Ensembl: ENSG000001961777   OMIM: 6003015   UniProtKB: P459543   

Export aliases for ACADSB gene to outside databases

Previous GC identifers: GC10P123785 GC10P124018 GC10P124775 GC10P124308 GC10P118386


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 acyl-coa dehydrogenase, short/branched chain deficiency, and isovaleric acidemia, and among its related super-pathways are valine degradation I and Metabolic pathways. GO annotations related to this gene include flavin adenine dinucleotide binding. An important paralog of this gene is ACADL.

UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACADSB gene promoter:
         NF-YA   GATA-1   NF-YB   CBF-A   CBF-B   HFH-1   SEF-1 (1)   CP1A   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACADSB promoter sequence
   Search SABiosciences Chromatin IP Primers for ACADSB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACADSB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q26.13   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q25-q26

ACADSB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACADSB gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P124758:  view genomic region     (about GC identifiers)

Start:
124,768,429 bp from pter      End:
124,817,827 bp from pter
Size:
49,399 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954 (See protein sequence)
Recommended Name: Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial precursor  
Size: 432 amino acids; 47485 Da
Cofactor: FAD
Subunit: Homotetramer
Subcellular location: Mitochondrion matrix
1 PDB 3D structure from and Proteopedia for ACADSB:
2JIF (3D)    
Secondary accessions: Q5SQN6 Q96CX7

Explore the universe of human proteins at neXtProt for ACADSB: NX_P45954

Explore proteomics data for ACADSB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P45954

  • 4/9 DME Specific Peptides for ACADSB (P45954) (see all 9)
     KEASMAK  IEELAKVD  RLLTYNAAR  FDFQGLQHQVA 

    ACADSB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACADSB Protein Expression
    REFSEQ proteins: NP_001600.1  
    ENSEMBL proteins: 
     ENSP00000357862   ENSP00000357873   ENSP00000407744  
    Reactome Protein details: P45954
    Human Recombinant Protein Products for ACADSB: 
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    Cloud-Clone Corp. Proteins for ACADSB 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS7698750
    GO:0005759mitochondrial matrix TAS--

    ACADSB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR006090 Acyl-CoA_Oxase/DH_1
     IPR009100 AcylCoA_DH/oxidase
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS

    Graphical View of Domain Structure for InterPro Entry P45954

    ProtoNet protein and cluster: P45954

    1 Blocks protein domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    ACADSB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ACDSB_HUMAN, P45954
    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
    Catalytic activity: Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor
    Catalytic activity: 2-methylbutanoyl-CoA + electron-transfer flavoprotein = (E)-2-methylbut-2-enoyl-CoA + reduced
    electron-transfer flavoprotein + H(+)

         Genatlas biochemistry entry for ACADSB:
    acyl-CoA dehydrogenase,short branched chain,mitochondrial,fatty acid beta-oxidation

         Enzyme Numbers (IUBMB): EC 1.3.992 EC 1.3.8.51

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity EXP--
    GO:0016491oxidoreductase activity ----
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    ACADSB for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACADSB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Branched-chain amino acid catabolism
    valine degradation I0.53
    Branched-chain amino acid catabolism0.50
    isoleucine degradation I0.53
    Valine, leucine and isoleucine degradation0.39
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Fatty Acid Beta Oxidation
    Fatty acid degradation0.32
    4Valproic Acid Pathway, Pharmacokinetics
    Valproic Acid Pathway, Pharmacokinetics
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ACADSB
        isoleucine degradation I
    valine degradation I


    3        Reactome Pathways for ACADSB
        Metabolism
    Metabolism of amino acids and derivatives
    Branched-chain amino acid catabolism

    1 PharmGKB Pathway for ACADSB
        Valproic Acid Pathway, Pharmacokinetics

    3         Kegg Pathways  (Kegg details for ACADSB):
        Fatty acid degradation
    Valine, leucine and isoleucine degradation
    Metabolic pathways

    UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954
    Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation


    ACADSB for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ACADSB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/21 Interacting proteins for ACADSB (P459543 ENSP000003578734) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP19O949663, ENSP000003818634I2D: score=2 STRING: ENSP00000381863
    ATG2AQ2TAZ03I2D: score=1 
    BECN1Q144573I2D: score=1 
    CLN3Q132863I2D: score=1 
    PRKAA2P546463I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process IEA--
    GO:0008152metabolic process ----
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    ACADSB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACADSB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ACADSB (ACDSB)

    10/37 HMDB Compounds for ACADSB (see all 37)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-2-Hexadecenoyl-CoA (see all 4)4460-95-1--
    (2E)-Octenoyl-CoA(E)-S-2-octenoate Coenzyme A (see all 16)10018-94-7--
    (2E)-Tetradecenoyl-CoA(2E)-Tetradecenoyl-Coenzyme A (see all 8)38795-33-4--
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)2152-91-2--
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    2 DrugBank Compounds for ACADSB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Isoleucine(2S,3S)-2-Amino-3-methylpentanoic acid (see all 11)73-32-5target--16317551 16950638 15615815
    Valproic Acid2-Propylpentanoic Acid (see all 8)99-66-1targetinhibitor16344985 2112956

    4 Novoseek inferred chemical compound relationships for ACADSB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-methylbutyryl-coa 98.8 17 15574432 (5), 17393751 (2), 12837870 (2), 17883863 (2) (see all 7)
    2-methyl-3-hydroxybutyryl-coa 93 2 16602099 (1), 16950638 (1)
    acyl-coa 85.5 21 15574432 (2), 7759115 (2), 16602099 (1), 9487154 (1) (see all 10)
    isoleucine 72.8 8 17945527 (2), 11013134 (1), 17393751 (1), 12837870 (1)

    Search CenterWatch for drugs/clinical trials and news about ACADSB / ACDSB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for ACADSB gene: 
    NM_001609.3  

    Unigene Cluster for ACADSB:

    Acyl-CoA dehydrogenase, short/branched chain
    Hs.81934  [show with all ESTs]
    Unigene Representative Sequence: NM_001609
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368869 ENST00000358776(uc001lhb.3 uc010qub.2) ENST00000411816
    ENST00000496730 ENST00000541070

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    Additional mRNA sequence: 

    AK298638.1 AK314241.1 AL831821.2 BC013756.1 BC020931.1 BC032395.1 BC045723.1 U12778.1 

    10 DOTS entries:

    DT.416941  DT.100024007  DT.100779963  DT.121295563  DT.121295582  DT.95263418  DT.100689618  DT.121295569 
    DT.121295691  DT.92425400 

    24/209 AceView cDNA sequences (see all 209):

    AI915897 AV682059 AA505970 BU190209 N53122 AI672498 AV645726 AI492506 
    AI680749 AA424737 AA917930 AI911527 NM_001609 AA953543 AV656592 AA236877 
    BM836131 AI111193 AW408417 BC013756 CR612602 CB162173 N66066 AV658287 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACADSB expression in normal human tissues (normalized intensities)      ACADSB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAATGTGA
    ACADSB Expression
    About this image


    ACADSB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             Trigeminal Ganglion   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See ACADSB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACADSB

    SOURCE GeneReport for Unigene cluster: Hs.81934

    UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Arrays including ACADSB: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ACADSB gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acadsb1 , 5 acyl-Coenzyme A dehydrogenase, short/branched chain less1, 5 82.17(n)1
    83.18(a)1
      7 (74.03 cM)5
    668851  NM_025826.41  NP_080102.11 
     1314106015 
    chicken
    (Gallus gallus)
    Aves ACADSB1 acyl-CoA dehydrogenase, short/branched chain 72.38(n)
    70.83(a)
      423947  NM_001031240.1  NP_001026411.1 
    lizard
    (Anolis carolinensis)
    Reptilia ACADSB6
    acyl-CoA dehydrogenase, short/branched chain
    66(a)
    1 ↔ 1
    3(60001080-60017584)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.17132 Transcribed sequence with moderate similarity to protein pirA55680 (H.sapiens) A55680 acyl-CoA dehydrogenase (EC 1.3.99.-) short/branched chain specific precursor - human less 74.56(n)    BX707129.1 
    zebrafish
    (Danio rerio)
    Actinopterygii acadsb6
    acyl-CoA dehydrogenase, short/branched chain
    66(a)
    1 ↔ 1
    12(50644670-50652623)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG39021 , 3 short branched-chain acyl-CoA
    dehydrogenase3
    CG39021
    62(a)3
    60.26(n)1
    62.11(a)1
      75E43
    400591  NM_140812.21  NP_649069.21 
    worm
    (Caenorhabditis elegans)
    Secernentea K06A5.63
    acdh-31
    acyl-coA dehydgrogenase3
    Protein ACDH-31
    62(a)
    (best of 7)3
    62.64(n)1
    61.94(a)1
      I(6472332-6473462)3
    1723511  NM_059458.31  NP_491859.11 


    ENSEMBL Gene Tree for ACADSB (if available)
    TreeFam Gene Tree for ACADSB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACADSB gene
    ACADL2  ACAD82  GCDH2  ACAD112  ACADS2  ACAD92  ACADM2  ACAD102  
    IVD2  ACADVL2  
    9 SIMAP similar genes for ACADSB using alignment to 3 protein entries:     ACDSB_HUMAN (see all proteins):
    IVD    ACAD9    ACADS    ACADM    ACAD8    ACADVL
    DKFZp686M24262    ACADL    GCDH

    ACADSB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1025 SNPs in ACADSB are shown (see all 1025)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0130104
    Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD)4--see VAR_0130102 L F mis40--------
    rs586393221,2
    C,Fpathogenic1125146524(+) TAACAC/TACTGA 2 T I mis12Minor allele frequency- T:0.00NA EU 5865
    rs1880942801,2
    Cpathogenic1125159079(+) GTATCA/GAGTGG 2 K E mis10--------
    rs122630121,2,4
    C,F,H--118386331(+) CAGCAG/AGCTGG 2 /K /R mis1 ese320Minor allele frequency- A:0.23MN EA NS NA WA 6120
    rs1481808351,2
    C--118399957(+) ATTCT-/TATCCTTAG
    TAACCCAAGGA
    TATCC
    1 -- int10--------
    rs2013316261,2
    C--118404002(-) CTTCCC/TTTTTT 1 -- int10--------
    rs1442979481,2
    C--118405518(+) CTAGT-/TTAA  
            
    TTATT
    1 -- int10--------
    rs39809451,2
    C--118408032(-) ACCCA-/GT    
       TAGTA
    AAAGA
    1 -- int10--------
    rs57885891,2
    C--118408034(+) CTTTT-/ACTAAC
    T
    /TACTAAC
    GGGTT
    1 -- int10--------
    rs1121785771,2
    C--118417621(+) AAAAA-/AATAATAA 2 -- int1 cds11Minor allele frequency- AAT:0.00CSA 2

    HapMap Linkage Disequilibrium report for ACADSB (124768429 - 124817827 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ACADSB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2674518CNV Deletion23128226
    nsv7586CNV Insertion18451855
    nsv832010CNV Gain17160897


    Human Gene Mutation Database (HGMD): ACADSB

    Locus Specific Mutation Databases (LSDB): ACADSB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ACADSB
    DNA2.0 Custom Variant and Variant Library Synthesis for ACADSB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600301   
    OMIM disorders: 610006  
    UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 9 diseases for ACADSB:    About MalaCards
    acyl-coa dehydrogenase, short/branched chain deficiency    isovaleric acidemia    ketothiolase deficiency    beta-ketothiolase deficiency
    propionic acidemia    mental retardation    tuberculosis    hypertension
    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for ACADSB:
    Isovaleric acidemia

    ACADSB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for ACADSB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    isovaleric acidemia 87 2 17393751 (1), 11427446 (1)

    Genetic Association Database (GAD): ACADSB
    Human Genome Epidemiology (HuGE) Navigator: ACADSB (5 documents)

    Export disorders for ACADSB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACADSB gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with ACADSB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. (PubMed id 16317551)1, 2, 7 Madsen P.P.... Andresen B.S. (2006)
    2. Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. (PubMed id 7698750)1, 2, 3 Rozen R.... Fournier B. (1994)
    3. Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. (PubMed id 7759115)1, 3, 9 Arden K.C....Rozen R. (1995)
    4. 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. (PubMed id 11013134)1, 2, 9 Andresen B.S.... Skovby F. (2000)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. Association of genetic polymorphisms of ACADSB and COMT with human hypertension. (PubMed id 17143180)1, 4 Kamide K....Miyata T. (2007)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. 2-methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. (PubMed id 10832746)1, 2 Gibson K.M.... Vockley J. (2000)
    10. Inborn errors of isoleucine degradation: a review. (PubMed id 16950638)7, 9 Korman S.H. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 36 HGNC: 91 AceView: ACADSB Ensembl:ENSG00000196177 euGenes: HUgn36
    ECgene: ACADSB Kegg: 36 H-InvDB: ACADSB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ACADSB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADSB

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ACADSB gene:
    Search GeneIP for patents involving ACADSB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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