BCKDHB Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | BCKDHB |
| Official Name | branched chain keto acid dehydrogenase E1 subunit beta [Source:HGNC Symbol;Acc:HGNC:987] |
| Ensembl ID | ENSG00000083123 |
| Bio databases IDs | |
| Aliases | branched chain keto acid dehydrogenase E1 subunit beta, maple syrup urine disease, 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial |
| Synonyms | BCKDE1B, BCKDHE1, BCKDH E1-beta, BCKDH E1-β, branched chain keto acid dehydrogenase E1, beta polypeptide, branched chain keto acid dehydrogenase E1 subunit beta, branched chain keto acid dehydrogenase E1 subunit β, branched chain ketoacid dehydrogenase E1, β polypeptide, E1B, LOC101928714, MSUD1B, OVD1B |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human BCKDHB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Transketolase, pyrimidine binding domain
- binding protein
- 2-oxoisovalerate dehydrogenase (acylating)
- 3-methyl-2-oxobutanoate dehydrogenase (lipoamide)
- enzyme
- protein binding
- Transketolase, C-terminal domain
- thiamine pyrophosphate-dependent enzyme pyrimidine binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- liver cancer
- hepatocellular carcinoma
- maple syrup urine disease
- maple syrup urine disease type 1B
- maple syrup urine disease type 1A
- amblyopia
- hereditary disorder
- non-insulin-dependent diabetes mellitus
- androgenic alopecia
role in cell
- production in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
- mitochondrial inner membrane
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCKDHB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- branched chain family amino acid catabolic process
- response to glucocorticoid stimulus
- lipid metabolic process
- response to cAMP
- response to nutrient
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- oxoglutarate dehydrogenase complex
- mitochondrion
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
- protein binding
- 2-oxoisovalerate dehydrogenase (acylating) activity