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

ACADSB Gene

protein-coding   GIFtS: 62
GCID: GC10P124758

acyl-CoA dehydrogenase, short/branched chain

(Previous names: acyl-Coenzyme A dehydrogenase, short/branched chain )
 Explore 10 diseases affiliated with
ACADSB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ACADSB    

Aliases
for ACADSB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Acyl-CoA Dehydrogenase, Short/Branched Chain1 2     2-Methylbutyryl-Coenzyme A Dehydrogenase2 3
SBCAD1 2 3 5     Short/Branched Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial2
ACAD71 2     2-Methylbutyryl-CoA Dehydrogenase3
Acyl-Coenzyme A Dehydrogenase, Short/Branched Chain1 2     EC 1.3.8.53
2-MEBCAD2 3     EC 1.3.998
2-Methyl Branched Chain Acyl-CoA 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


Summaries
for ACADSB gene

(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:
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)

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




Genomic Views
for ACADSB gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
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 plasmid: ACADSB 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

Proteins
for ACADSB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001600.1  
    ENSEMBL proteins: 
     ENSP00000357862   ENSP00000357873   ENSP00000407744  
    Reactome Protein details: P45954
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    Uscn 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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    Protein Domains /
    Families
    for ACADSB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ACADSB for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: IPB006089 Acyl-CoA dehydrogenase

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


    Function
    for ACADSB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    hsa-miR-142-5p hsa-miR-136 hsa-miR-361-5p hsa-miR-1321 hsa-miR-3655 hsa-miR-488 hsa-miR-500a hsa-miR-4275
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Gene Editing
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    Clone
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    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:0009055electron carrier activity ----
    GO:0016937short-branched-chain-acyl-CoA dehydrogenase activity ----
    GO:0050660flavin adenine dinucleotide binding IEA--


    ACADSB for ontologies           About GeneDecksing



    Pathways & Interactions
    for ACADSB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Branched-chain amino acid catabolism
    		Branched-chain amino acid catabolism1.00
    		isoleucine degradation I0.41
    		valine degradation I0.48
    		Valine, leucine and isoleucine degradation0.39
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    4Valproic Acid Pathway, Pharmacokinetics
    		Valproic Acid Pathway, Pharmacokinetics1.00
    5Fatty Acid Beta Oxidation
    		Fatty acid metabolism0.32

    Pathway sources
    See GeneCards unified pathways
    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 metabolism
    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 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006631fatty acid metabolic process IEA--
    GO:0006637acyl-CoA metabolic 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



    Drugs & Compounds
    for ACADSB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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-propylvaleric acid (see all 5)99-66-1targetinhibitor16344985 2112956

    4 Novoseek 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 

    Transcripts
    for ACADSB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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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    hsa-miR-142-5p hsa-miR-136 hsa-miR-361-5p hsa-miR-1321 hsa-miR-3655 hsa-miR-488 hsa-miR-500a hsa-miR-4275
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    Additional cDNA 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):

    AI911527 BU190209 AA917930 AV656592 AA424737 AI915897 AA236877 N53122 
    CR612602 AA953543 AI680749 AI492506 AV645726 NM_001609 AW408417 AV682059 
    AI111193 BM836131 BC013756 AA505970 AI672498 AV662308 AA904754 BG696761 

    GeneLoc Exon Structure


    Expression
    for ACADSB gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCAAATGTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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: 
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    In Situ
    Assay Products:     
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    Orthologs
    for ACADSB gene

    (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 6/24 species (see all 24)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 66(a)
    		 1 ↔ 1
    		 3(60004414-60017584)
    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
    		 67(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
    for ACADSB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACADSB gene
    ACADL2  ACAD82  ACAD112  GCDH2  ACADS2  ACAD92  ACAD102  ACADM2  
    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



    Genomic Variants
    for ACADSB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/870 NCBI SNPs in ACADSB are shown (see all 870)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1880942801,2
    		C,pathogenic118833008(+) GTATCA/GAGTGG 2 K E mis10--------
    rs586393221,2
    		C,F,pathogenic118845499(+) TAACAC/TACTGA 2 T I mis12Minor allele frequency- T:0.00NA EU 5865
    rs412991511,2
    		C,--118384523(+) AGCTAG/CTAACT 1 -- us2k12Minor allele frequency- C:0.04NA 122
    rs1139037261,2
    		--118384669(+) ACTGGC/TGGATT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs728397551,2
    		C,F,--118386171(+) CAGCAG/AGGGGC 1 -- us2k11Minor allele frequency- A:0.09NA 120
    rs1113521941,2
    		C,--118386620(+) TTTGCT/AGGCCG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs70729131,2
    		C,F,H,--118386637(+) CCTGAG/AAGCCA 1 -- int15Minor allele frequency- A:0.02NS EA WA 536
    rs1130863311,2
    		F,--118387539(+) GAAAAG/AGAATA 1 -- int12Minor allele frequency- A:0.50CSA 4
    rs765468941,2
    		F,--118387588(+) TATTCG/CAACTC 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1123983031,2
    		C,--118389371(+) TCACCC/TTCCAA 1 -- int13Minor allele frequency- T:0.05NA WA 240

    HapMap Linkage Disequilibrium report for ACADSB (124768429 - 124817827 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ACADSB
         1 CNV: 4714
    Human Gene Mutation Database (HGMD): ACADSB

    Locus Specific Mutation Databases (LSDB): ACADSB

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACADSB
    DNA2.0 Custom Variant and Variant Library Synthesis for ACADSB

    Disorders / Diseases
    for ACADSB gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ACADSB for disorders           About GeneDecksing

    OMIM gene information: 600301   
    OMIM disorders: 610006  
    UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954
  • Defects in ACADSB are the cause of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD)
    • [MIM:610006]; also known as 2-methylbutyryl-CoA dehydrogenase deficiency or 2-methylbutyryl glycinuria. SBCADD is an
    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

    10 diseases for ACADSB:    About MalaCards
    acyl-coa dehydrogenase    2-methylbutyryl-coa dehydrogenase deficiency    isovaleric acidemia    beta-ketothiolase deficiency
    propionic acidemia    ketothiolase deficiency    alzheimer's disease    hypertension
    tuberculosis    mycobacterium tuberculosis

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ACADSB (5 documents)

    Export disorders for ACADSB gene to outside databases

    Publications
    for ACADSB gene

    (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 42):
    (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. 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)
    6. 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)
    7. Inborn errors of isoleucine degradation: a review. (PubMed id 16950638)7, 9 Korman S.H. (2006)
    8. A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase. (PubMed id 12855692)1, 9 He M....Vockley J. (2003)
    9. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. (PubMed id 15615815)7, 9 Korman S.H....Pitt J.J. (2005)
    10. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)

    External Searches for ACADSB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ACADSB gene

    (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

    Other Databases showing ACADSB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ACADSB gene

    (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

    Intellectual Property
    for ACADSB gene

    (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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