BCKDHA Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | BCKDHA |
| Official Name | branched chain keto acid dehydrogenase E1 subunit alpha [Source:HGNC Symbol;Acc:HGNC:986] |
| Ensembl ID | ENSG00000248098 |
| Bio databases IDs | |
| Aliases | branched chain keto acid dehydrogenase E1 subunit alpha, maple syrup urine disease |
| Synonyms | BCKAD, BCKAD E1 alpha, BCKAD E1 α, BCKDA, BCKDE1A, Branch chain alpha-letpacod decarboxylase e1alpha, Branch chain α-letpacod decarboxylase e1alpha, Branched Chain Alpha-Ketoacid Dehydrogenase Subunit E1, branched chain ketoacid dehydrogenase E1, alpha polypeptide, branched chain keto acid dehydrogenase E1 subunit alpha, branched chain keto acid dehydrogenase E1 subunit α, branched chain ketoacid dehydrogenase E1, α polypeptide, Branched Chain α-Ketoacid Dehydrogenase Subunit E1, DecxE1a, E1a, E1[a], MSU, MSUD1, MSUD1A, OVD1A |
| 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 BCKDHA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- TPP_enzymes
- binding protein
- CR1 domain
- CR2 domain
- 2-oxoisovalerate dehydrogenase (acylating)
- Dehydrogenase E1 component
- 3-methyl-2-oxobutanoate dehydrogenase (lipoamide)
- CR3 domain
- carboxy-lyase
- enzyme
- protein binding
- pyruvate dehydrogenase E1 component, alpha subunit
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
- maple syrup urine disease
- maple syrup urine disease type 1A
- hepatocellular carcinoma
- liver cancer
- hereditary disorder
- male pattern hair loss
- acute graft-vs-host disease
- neoplastic cell transformation
role in cell
- expression in
- phosphorylation in
- tubulation
- transformation
- autophagy by
- sensitization
- autophagy
- fragmentation in
- tubulation in
- fragmentation
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human BCKDHA 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
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- oxoglutarate dehydrogenase complex
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity
- protein binding
- metal ion binding
- 2-oxoisovalerate dehydrogenase (acylating) activity
- carboxy-lyase activity