BCKDHB (Gene)

Organism:

Homo sapiens

Synonyms:BCKDE1B, BCKDH E1-beta, BCKDHB, E1B, ENTREZ:594, HGNC:987, MIM:248611, NM_000056, NM_001318975, NM_183050, NP_000047, NP_001305904, NP_898871, NR_134945, XM_005248756, XM_011536023, XM_011536024, XM_011536025, XP_005248813, XP_011534325, XP_011534326, XP_011534327, XR_001743546, XR_001743547, XR_001743548, XR_001743549, XR_002956292, branched chain keto acid dehydrogenase E1 subunit beta

Omim:OMIM:248611

Id:ENSG00000083123

Hgnc:HGNC:987

Entrez:594

Ensembl:ENSG00000083123

Description:branched chain keto acid dehydrogenase E1 subunit beta

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]

Analyze

CFDE DD-Knowledge Graph

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

Submit

Playbook Workflow Builder: Gene-Centric Workflow

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

CFDE Gene-Centric Appyter

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

Submit

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 BCKDHB.

Submit

Playbook Workflow Builder

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

Results found

Linked to

	Label	Description
	GSE166914 1 V 2 ABEMACICLIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE145990 1 V 0 IBRUTINIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE128730 3 V 5 NERATINIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE172016 2 V 0 PACLITAXEL HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE142210 11 V 10 PANOBINOSTAT HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE97616 GSE97617 NOK overexpression HEK RNA Small Interfering 0 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE120210 GSE120214 TBXT brachyury inhibition 4 v 0 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE163862 2 V 3 CISPLATIN MOUSE DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE199107 tryptophan 0 v 7 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE158456 2 V 3 FURIN MOUSE DN Gene Set (Entity type)	A Gene Set from LINCS

GSE166914 1 V 2 ABEMACICLIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE145990 1 V 0 IBRUTINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE128730 3 V 5 NERATINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE172016 2 V 0 PACLITAXEL HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE142210 11 V 10 PANOBINOSTAT HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE97616 GSE97617 NOK overexpression HEK RNA Small Interfering 0 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE120210 GSE120214 TBXT brachyury inhibition 4 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE163862 2 V 3 CISPLATIN MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE199107 tryptophan 0 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE158456 2 V 3 FURIN MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

DISPLAY PER PAGE

CFDE Workbench

Consortium

Community

Resources

@CFDE Workbench 2026

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.

Consortium

Community

Resources

CFDE Workbench

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.