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BCKDHA (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:BCKDE1A, BCKDHA, ENTREZ:593, HGNC:986, MIM:608348, MSU, MSUD1, NM_000709, NM_001164783, NP_000700, NP_001158255, OVD1A, branched chain keto acid dehydrogenase E1 subunit alpha
Omim:OMIM:608348
Id:ENSG00000248098
Hgnc:HGNC:986
Entrez:593
Ensembl:ENSG00000248098
Description:branched chain keto acid dehydrogenase E1 subunit alpha
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View BCKDHA's neighborhood in the knowledge graph.

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Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with BCKDHA.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using BCKDHA.

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Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for BCKDHA.

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Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with BCKDHA.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE158632 3 V 5 OXYQUINOLINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE242555 1 V 0 NICOTINAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE207871 NPC knockdown S18 1 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE213588 trametinib NF1 8 v 11 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE195559 NOTCH1 knockout endothelial cell cardiac muscle cell stem cell 2 v 7 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE110178 2 V 3 TRANYLCYPROMINE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE197555 0 V 3 TRAMETINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE95077 1 V 2 AMILORIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE228430 FABP5 inhibition Huh-7 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE158632 3 V 5 OXYQUINOLINE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE242555 1 V 0 NICOTINAMIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE207871 NPC knockdown S18 1 v 0 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 trametinib NF1 8 v 11 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE195559 NOTCH1 knockout endothelial cell cardiac muscle cell stem cell 2 v 7 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE110178 2 V 3 TRANYLCYPROMINE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE197555 0 V 3 TRAMETINIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE95077 1 V 2 AMILORIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE228430 FABP5 inhibition Huh-7 2 v 0 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

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    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.