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

BCKDHB Gene

protein-coding   GIFtS: 65
GCID: GC06P080873

branched chain keto acid dehydrogenase E1, beta polypeptide
 Explore 12 diseases affiliated with
BCKDHB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for BCKDHB    

Aliases
for BCKDHB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide1 2     2-Oxoisovalerate Dehydrogenase Beta Subunit2
Branched-Chain Alpha-Keto Acid Dehydrogenase E1 Component Beta Chain2 3     2-Oxoisovalerate Dehydrogenase Subunit Beta, Mitochondrial2
BCKDE1B2 3     Branched Chain Alpha-Ketoacid Dehydrogenase E1-Beta Subunit2
BCKDH E1-Beta2 3     DJ279A18.11
EC 1.2.4.43 8     E1b-Beta Subunit Of The Branched-Chain Complex2
E1B2 5     

External Ids:    HGNC: 9871   Entrez Gene: 5942   Ensembl: ENSG000000831237   OMIM: 2486115   UniProtKB: P219533   

Export aliases for BCKDHB gene to outside databases

Previous GC identifers: GC06P080759 GC06P080811 GC06P078039


Summaries
for BCKDHB 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 BCKDHB:
Branched-chain keto acid dehydrogenase is a multienzyme complex associated with the inner membrane of mitochondria, and
functions in the catabolism of branched-chain amino acids. The complex consists of multiple copies of 3 components:
branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3).
This gene encodes the E1 beta subunit, and mutations therein have been associated with maple syrup urine disease
(MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical
retardation, and feeding problems. Alternative splicing at this locus results in transcript variants with different 3'
non-coding regions, but encoding the same isoform. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ODBB_HUMAN, P21953
Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to
acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid
decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)

Gene Wiki entry for BCKDHB


Genomic Views
for BCKDHB 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_000006.11  NC_018917.1  NT_007299.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCKDHB gene promoter:
         TBP   USF1   HOXA3   Lmo2   POU2F1   TFIID   POU2F1b   POU2F1a   USF-1   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BCKDHB promoter sequence
   Search SABiosciences Chromatin IP Primers for BCKDHB

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


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

Entrez Gene cytogenetic band: 6q14.1   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q14.1

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P080873:  view genomic region     (about GC identifiers)

Start:
 80,816,344 bp from pter      End:
 81,055,987 bp from pter
Size:
 239,644 bases      Orientation:
 plus strand

Proteins
for BCKDHB 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: ODBB_HUMAN, P21953 (See protein sequence)
Recommended Name: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor  
Size: 392 amino acids; 43122 Da
Subunit: Heterodimer of an alpha and a beta chain
Subcellular location: Mitochondrion matrix
6/24 PDB 3D structures from and Proteopedia for BCKDHB (see all 24):
1DTW (3D)        1OLS (3D)        1OLU (3D)        1OLX (3D)        1U5B (3D)        1V11 (3D)    
Secondary accessions: Q9BQL0

Explore the universe of human proteins at neXtProt for BCKDHB: NX_P21953

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21953

    • 4/6 DME Specific Peptides for BCKDHB (P21953) (see all 6)
     EIQFADY  QKMNLFQ  FGGVFRCT  HGALYHSQS 

    BCKDHB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000047.1  NP_898871.1  

    ENSEMBL proteins: 
     ENSP00000358775   ENSP00000318351   ENSP00000348880   ENSP00000443564  
    Reactome Protein details: P21953
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IMP2022752
    GO:0005759mitochondrial matrix TAS--
    GO:0005947mitochondrial alpha-ketoglutarate dehydrogenase complex IMP2022752


    BCKDHB for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for BCKDHB gene

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

    4 InterPro domains/families:
     IPR005476 Transketolase_C
     IPR009014 Transketo_C/Pyr-ferredox_oxred
     IPR005475 Transketolase-like_Pyr-bd
     IPR015941 Transketolase-like_C

    Graphical View of Domain Structure for InterPro Entry P21953

    ProtoNet protein and cluster: P21953

    2 Blocks protein families:
    IPB005475 Transketolase
    IPB005476 Transketolase



    Function
    for BCKDHB 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: ODBB_HUMAN, P21953
    Function: The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to
    acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid
    decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3)
    Catalytic activity: 3-methyl-2-oxobutanoate + [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] lipoyllysine
    = [dihydrolipoyllysine-residue (2-methylpropanoyl)transferase] S-(2-methylpropanoyl)dihydrolipoyllysine + CO(2)

         Genatlas biochemistry entry for BCKDHB:
    branched chain keto acid dehydrogenase E1,beta polypeptide,inner mitochondrial membrane

    Enzyme Number (IUBMB): EC 1.2.4.41 2

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate BCKDHB:
    hsa-miR-587 hsa-miR-141* hsa-miR-3607-3p hsa-miR-588 hsa-miR-548am hsa-miR-548x hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmid: BCKDHB 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003826alpha-ketoacid dehydrogenase activity IEA--
    GO:00038633-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity IEA--
    GO:0005515protein binding IPI15576032
    GO:0016831carboxy-lyase activity TAS11839747
    GO:0032403protein complex binding IEA--


    BCKDHB for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for BCKDHB:
     Decreased Hepatitis C virus re  Increased S DNA content 


    Pathways & Interactions
    for BCKDHB 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
    22-oxoisovalerate decarboxylation to isobutanoyl-CoA
    		2-oxoisovalerate decarboxylation to isobutanoyl-CoA1.00
    		2-oxobutanoate degradation I0.57
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    5Methionine metabolism
    		superpathway of methionine degradation0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5 BioSystems Pathways for BCKDHB 
        isoleucine degradation I
    2-oxoisovalerate decarboxylation to isobutanoyl-CoA
    valine degradation I
    2-oxobutanoate degradation I
    superpathway of methionine degradation

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


    2         Kegg Pathways  (Kegg details for BCKDHB):
        Valine, leucine and isoleucine degradation
    Metabolic pathways


    BCKDHB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BCKDHB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/22 Interacting proteins for BCKDHB (P219531, 2, 3 ENSP000003183514) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCKDHAP126941, 2, 3, ENSP000002699804EBI-1029067,EBI-1029053 MINT-25099 I2D: score=5 STRING: ENSP00000269980
    BCKDKO148743, ENSP000002197944I2D: score=1 STRING: ENSP00000219794
    WIPI2Q9Y4P83I2D: score=1 
    ACAD8ENSP000002811824STRING: ENSP00000281182
    ACADSBENSP000003578734STRING: ENSP00000357873
    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:0007584response to nutrient IEA--
    GO:0009083branched-chain amino acid catabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0051384response to glucocorticoid stimulus IEA--


    BCKDHB for ontologies           About GeneDecksing



    Drugs & Compounds
    for BCKDHB 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

    BCKDHB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for BCKDHB

    10/43 HMDB Compounds for BCKDHB (see all 43)    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-Ketobutyric acid2-Ketobutanoate (see all 35)600-18-0--
    2-Methyl-1-hydroxypropyl-ThPP2-Methyl-1-hydroxypropyl-TPP ----
    2-Methylbutyryl-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3-Methyl-1-hydroxybutyl-ThPP3-Methyl-1-hydroxybutyl-TPP ----
    2 Novoseek chemical compound relationships for BCKDHB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thiamin diphosphate 81.6 13 12902323 (3), 16472748 (3), 15166214 (2)
    pyruvate 40.2 3 2322554 (1), 17329260 (1), 12902323 (1)

    Search CenterWatch for drugs/clinical trials and news about BCKDHB / ODBB 

    Transcripts
    for BCKDHB 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 BCKDHB gene (2 alternative transcripts): 
    NM_000056.3  NM_183050.2  

    Unigene Cluster for BCKDHB:

    Branched chain keto acid dehydrogenase E1, beta polypeptide
    Hs.654441  [show with all ESTs]
    Unigene Representative Sequence: NM_183050
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369760 ENST00000320393(uc003pje.2) ENST00000356489(uc003pjd.2)
    ENST00000486968 ENST00000468520 ENST00000491328 ENST00000545529

    miRNA
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    hsa-miR-587 hsa-miR-141* hsa-miR-3607-3p hsa-miR-588 hsa-miR-548am hsa-miR-548x hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmid: BCKDHB 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK289977.1 AK304353.1 AK310838.1 AK316545.1 BC040139.2 BT020063.1 M55575.1 U50708.1 
    U51016.1 

    9 DOTS entries:

    DT.95163841  DT.91750490  DT.101981729  DT.91750498  DT.95163843  DT.91980418  DT.121391333  DT.40118217 
    DT.97772536 

    24/154 AceView cDNA sequences (see all 154):

    CA447889 BE886515 BQ024234 AA262255 M55575 CR623511 BE855721 CR604591 
    BF507601 BQ775613 AA262254 BU163974 CR590082 CA388754 BG697977 AI366923 
    AA470010 H94630 BU501945 BE315539 BU682390 X52446 BX436073 BF436174 

    GeneLoc Exon Structure


    Expression
    for BCKDHB 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

    BCKDHB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    BCKDHB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.654441
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              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    Orthologs
    for BCKDHB 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 eukaryotes.

    Orthologs for BCKDHB gene from 8/34 species (see all 34)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves BCKDHB1 branched chain keto acid dehydrogenase E1, beta polypeptide 78.89(n)
    86.28(a)    		   395375  NM_204657.1  NP_989988.1 
    lizard
    (Anolis carolinensis)    		 Reptilia BCKDHB6
    		 --
    		 85(a)
    		 1 ↔ 1
    		 1(199164768-199207241)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.130252 Xenopus laevis transcribed sequence with strong similarity more 77.34(n)    BX843481.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii CA975043.12   -- 74.69(n)    CA975043.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG176911 , 3 3-methyl-2-oxobutanoate dehydrogenase
    (lipoamide)3
    CG176911    		 66(a)3
    61.03(n)1
    65.58(a)1    		   33550691  NM_001015354.31  NP_001015354.31 
    worm
    (Caenorhabditis elegans)    		 Secernentea F27D4.53
    tag-1731    		 2-oxoisovalerate dehydrogenase3
    Protein TAG-1731    		 65(a)3
    64.46(n)1
    66.28(a)1    		   I(7735209-7736123)3
    1725391  NM_059748.31  NP_492149.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons BCDH BETA11 branched-chain alpha-keto acid decarboxylase E1 beta more 63.76(n)
    68.22(a)    		   841998  NM_104426.3  NP_175947.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.119822 Oryza sativa (japonica cultivar-group) cDNA clone0 more 76.75(n)    AK102495.1 


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

    Paralogs
    for BCKDHB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCKDHB gene
    PDHB2  
    1 SIMAP similar gene for BCKDHB using alignment to 2 protein entries:     ODBB_HUMAN (see all proteins):
    PDHB

    BCKDHB for paralogs           About GeneDecksing



    Genomic Variants
    for BCKDHB 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

    10/4327 NCBI SNPs in BCKDHB are shown (see all 4327)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs797618671,2
    		C,Fpathogenic78101490(+) TATCCG/CGTCCC 4 /P /R mis11Minor allele frequency- C:0.00NA 4550
    rs729068571,2
    		C,F,--78037229(+) AAAAAA/GTCAGT 2 -- us2k11Minor allele frequency- G:0.07NA 120
    rs751537321,2
    		F,--78037266(+) GCTCTG/CTTTGT 2 -- us2k11Minor allele frequency- C:0.04NA 120
    rs24902331,2
    		F,--78037915(+) AAATGT/CAATTT 2 -- us2k11Minor allele frequency- C:0.20WA 118
    rs38121491,2
    		C,--78038877(-) TTACAA/GTGCCA 2 -- us2k10--------
    rs38121481,2
    		C,F,H,--78038958(-) GTCGGC/TCGTGC 2 -- us2k18Minor allele frequency- T:0.16EA NS WA 1930
    rs1134487141,2
    		--78039153(+) AGCCTT/CCTCGG 2 -- us2k11Minor allele frequency- C:0.00CSA 1
    rs757031551,2
    		F,--78039572(+) TCTAAC/ATGTGG 2 -- int11Minor allele frequency- A:0.05WA 118
    rs29973921,2
    		C,F,H,--78040326(+) CATGTA/GGCAAA 2 -- int19Minor allele frequency- G:0.11NS EA NA CSA WA 628
    rs734779741,2
    		C,--78040635(+) ATTCCC/TATTTT 2 -- int13Minor allele frequency- T:0.06WA NA 240

    HapMap Linkage Disequilibrium report for BCKDHB (80816344 - 81055987 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for BCKDHB
         1 CNV: 69562
    Human Gene Mutation Database (HGMD): BCKDHB

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

    Disorders / Diseases
    for BCKDHB 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
    BCKDHB for disorders           About GeneDecksing

    OMIM gene information: 248611   
    OMIM disorders: 248600  
    UniProtKB/Swiss-Prot: ODBB_HUMAN, P21953
  • Defects in BCKDHB are the cause of maple syrup urine disease type IB (MSUD1B) [MIM:248600]. MSUD is an
    • autosomal recessive disorder characterized by mental and physical retardation, feeding problems, and a maple syrup
    odor to the urine

    12 diseases for BCKDHB:    About MalaCards
    maple syrup urine disease    maple syrup urine disease, type ib    maple syrup urine disease type 1a    premature ovarian failure
    gliosarcoma    malignant glioma    celiac disease    ischemia
    pneumonia    tuberculosis    malaria    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for BCKDHB:
    Maple syrup urine disease

    1 Novoseek disease relationship for BCKDHB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    maple syrup urine disease 91.2 3 16786533 (1), 19480318 (1), 17922217 (1)

    GeneTests: BCKDHB
    Maple Syrup Urine Disease

    Genetic Association Database (GAD): BCKDHB
    Human Genome Epidemiology (HuGE) Navigator: BCKDHB (3 documents)

    Export disorders for BCKDHB gene to outside databases

    Publications
    for BCKDHB 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 BCKDHB gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with BCKDHB)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. (PubMed id 11509994)1, 2, 4, 9 Edelmann L.... Diaz G.A. (2001)
    2. 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)
    3. Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences. (PubMed id 8651316)1, 2 Chuang J.L.... Chuang D.T. (1996)
    4. Differential processing of human and rat E1 alpha precursors of the branched-chain alpha-keto acid dehydrogenase complex caused by an N- terminal proline in the rat sequence. (PubMed id 7918575)1, 2 Wynn R.M.... Chuang D.T. (1994)
    5. Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex. (PubMed id 8161368)1, 2 Nobukuni Y.... Matsuda I. (1993)
    6. Molecular cloning of the mature E1b-beta subunit of human branched- chain alpha-keto acid dehydrogenase complex. (PubMed id 2335211)1, 2 Chuang J.L.... Chuang D.T. (1990)
    7. Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease. (PubMed id 2365818)1, 2 Matsuda I....Nobukuni Y. (1990)
    8. The two active sites in human branched-chain alpha-keto acid dehydrogenase operate independently without an obligatory alternating-site mechanism. (PubMed id 17329260)1, 9 Li J....Chuang D.T. (2007)
    9. Cross-talk between thiamin diphosphate binding and phosphorylation loop conformation in human branched-chain alpha-keto acid decarboxylase/dehydrogenase. (PubMed id 15166214)1, 9 Li J....Chuang D.T. (2004)
    10. Roles of His291-alpha and His146-beta' in the reductive acylation reaction catalyzed by human branched-chain alpha-ketoacid dehydrogenase: refined phosphorylation loop structure in the active site. (PubMed id 12902323)1, 9 Wynn R.M....Chuang D.T. (2003)

    External Searches for BCKDHB gene

    (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)

    Genome Databases showing BCKDHB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 594 HGNC: 987 AceView: BCKDHB Ensembl:ENSG00000083123 euGenes: HUgn594
    ECgene: BCKDHB Kegg: 594 H-InvDB: BCKDHB

    Other Databases showing BCKDHB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing BCKDHB 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 BCKDHB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BCKDHB

    Intellectual Property
    for BCKDHB gene

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

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



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