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BCKDHB branched chain keto acid dehydrogenase E1 subunit beta

Gene ID: 594, updated on 28-Nov-2021
Gene type: protein coding
Also known as: E1B; BCKDE1B; BCKDH E1-beta

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Maple syrup urine diseaseSee labs
Maple syrup urine disease type 1B
MedGen: C2930990GeneReviews: Not available
See labs

Genomic context

Location:
6q14.1
Sequence:
Chromosome: 6; NC_000006.12 (80106610..80469088)
Total number of exons:
21

Links

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