Version: 8.0.0
Date: Tue Jan 28 2025
BCKDHB
Homo sapiensHGNC:987
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

BCKDHB

Species
Homo sapiens
Symbol
BCKDHB
Name
branched chain keto acid dehydrogenase E1 subunit beta
Synonyms
  • 2-oxoisovalerate dehydrogenase beta subunit
  • 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
Biotype
protein coding gene
Automated Description
Contributes to 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity and branched-chain alpha-keto acid dehydrogenase activity. Involved in branched-chain amino acid catabolic process. Located in mitochondrion; nucleolus; and nucleoplasm. Part of branched-chain alpha-ketoacid dehydrogenase complex. Implicated in maple syrup urine disease.
RGD Description
This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene 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 multiple transcript variants. [provided by RefSeq, Jan 2016]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR42980
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          BCKDHB molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            BCKDHB role
            BCKDHB genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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