BCKDHA Gene
Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha
Gene Information Card
| Symbol | BCKDHA |
|---|---|
| Full Name | Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 593 ncbi.nlm.nih.gov/gene/593 |
| Ensembl ID | ENSG00000104884 |
| UniProt ID | P12694 |
| OMIM ID | 608348 |
| HGNC ID | 982 |
| Aliases | BCKDE1A, MSUD1, E1-alpha |
Description
The BCKDHA gene encodes the alpha subunit of the branched-chain keto acid dehydrogenase (BCKD) complex, a mitochondrial enzyme complex that catalyzes the oxidative decarboxylation of branched-chain amino acids (leucine, isoleucine, valine). Mutations in BCKDHA cause maple syrup urine disease (MSUD), an autosomal recessive metabolic disorder characterized by accumulation of branched-chain amino acids and their keto acids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Maple Syrup Urine Disease (MSUD) | Loss-of-function mutations in BCKDHA impair BCKD complex activity, leading to accumulation of branched-chain amino acids and neurotoxicity. | ClinVar, OMIM |
| BCKDHA-related disorder | Homozygous or compound heterozygous variants cause classic MSUD; rare missense variants may result in milder forms. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Skeletal Muscle | 4.7 | Medium |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.1 | Hepatocyte-derived cell line |
| HEK293 | 7.8 | Embryonic kidney cells |
| K562 | 5.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1312C>T (p.Arg438Trp) | Missense | Common in MSUD | Loss of BCKD activity |
| c.1085delG (p.Gly362Valfs*2) | Frameshift | Rare | Null allele |
| c.1A>G (p.Met1Val) | Start loss | Rare | No protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most BCKDHA mutations are loss-of-function, reducing or abolishing BCKD complex activity, leading to MSUD.
Gain of Function (GOF)
No gain-of-function mutations reported for BCKDHA.
Dominant Negative (DN)
Not described; MSUD is recessive.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • branched-chain alpha-keto acid dehydrogenase activity (GO:0004086) |
| • mitochondrion (GO:0005739) | • branched-chain amino acid catabolic process (GO:0009083) |
| • oxidoreductase activity (GO:0016491) |
Pathways
• Branched-chain amino acid degradation (KEGG: hsa00280)
• Valine
• leucine and isoleucine degradation (Reactome: R-HSA-70895)
Protein Summary
The BCKDHA protein (E1 alpha subunit) is a 445-amino acid mitochondrial protein that forms a heterotetramer (alpha2beta2) with the E1 beta subunit (BCKDHB). It contains a thiamine pyrophosphate (TPP) binding domain essential for decarboxylation of branched-chain keto acids. Defects in this protein disrupt the BCKD complex, causing maple syrup urine disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCKDHA Knockout HEK293 Cell Line | EDJ-KQ3457 | Human | 593 | Details Get a Quote |
| BCKDHA Knockout A-549 Cell Line | EDJ-KQ26536 | Human | 593 | Details Get a Quote |
| BCKDHA Knockout HCT 116 Cell Line | EDJ-KQ26537 | Human | 593 | Details Get a Quote |
| BCKDHA Knockout HeLa Cell Line | EDJ-KQ26538 | Human | 593 | Details Get a Quote |
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