BCKDHB branched chain keto acid dehydrogenase E1 subunit beta
Gene ID: 594, updated on 2-Nov-2024Gene type: protein coding
Also known as: E1B; OVD1B; MSUD1B; BCKDE1B; BCKDH E1-beta
- See all available tests in GTR for this gene
- Go to complete Gene record for BCKDHB
- Go to Variation Viewer for BCKDHB variants
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
| Description | Tests |
|---|---|
| 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 disease MedGen: C0024776GeneReviews: Maple Syrup Urine Disease | See labs |
| Maple syrup urine disease type 1B | See labs |
Genomic context
- Location:
- 6q14.1
- Sequence:
- Chromosome: 6; NC_000006.12 (80106610..80466676)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BCKDHB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BCKDHB database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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