ZFIN ID: ZDB-GENE-030124-2
Gene Name: branched chain keto acid dehydrogenase E1 subunit beta
Gene Symbol: bckdhb    Nomenclature History

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Previous Name: zgc:158777

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 16 Mapping Details/Browsers
Description: Predicted to have alpha-ketoacid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process and response to nutrient. Predicted to localize to mitochondrial alpha-ketoglutarate dehydrogenase complex. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta).
Genome Resources: Alliance (1),  Gene:569980 (1),  Ensembl(GRCz11):ENSDARG00000014676 (2)
GENE EXPRESSION
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [IMAGE:7155092]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Hatching:Pec-fin (60.0h-72.0h)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la019863Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa22742 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH bckdhb HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    maple syrup urine disease Alliance Maple syrup urine disease, type Ib 248600
    DISEASE ASSOCIATED WITH bckdhb VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process branched-chain amino acid catabolic process (more)
    Cellular Component mitochondrial alpha-ketoglutarate dehydrogenase complex (more)
    Molecular Function catalytic activity (more)
    GO Terms (all 6)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA bckdhb-202 (1)    Ensembl 209
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM bckdhb No data available
    MARKER RELATIONSHIPS
    bckdhb Contained in: [Fosmid] CH1073-438L20 (1)
    bckdhb Encodes: [EST] fb54e12, IMAGE:7155092 (1)
    [cDNA] MGC:158777 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001080653 (1)
    Genomic GenBank:CU694364 (1) 41710 nt
    Select Tool
    Polypeptide UniProtKB:A0A2R8QUY1 (1) 405 aa
    Sequence Information (all 16)
    ORTHOLOGY for bckdhb ( Chr: 16 )
    CITATIONS (26)