PDHB Gene (Pyruvate Dehydrogenase E1 Subunit Beta)
Comprehensive genomic and clinical resource for PDHB, a key component of the pyruvate dehydrogenase complex.
Gene Information Card
| Symbol | PDHB |
|---|---|
| Full Name | Pyruvate Dehydrogenase E1 Subunit Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 5162 ncbi.nlm.nih.gov/gene/5162 |
| Ensembl ID | ENSG00000168291 |
| UniProt ID | P11177 |
| OMIM ID | 179060 |
| HGNC ID | 8808 |
| Aliases | PDHE1-B, PHE1B, PDHBD |
Description
The PDHB gene encodes the beta subunit of the pyruvate dehydrogenase (E1) component of the pyruvate dehydrogenase complex (PDC). This mitochondrial multienzyme complex catalyzes the irreversible conversion of pyruvate to acetyl-CoA, linking glycolysis to the citric acid cycle. Mutations in PDHB cause pyruvate dehydrogenase E1-beta deficiency, a disorder of mitochondrial metabolism leading to lactic acidosis and neurological dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyruvate dehydrogenase E1-beta deficiency | Loss-of-function mutations in PDHB impair PDC activity, reducing acetyl-CoA production and causing accumulation of lactate and pyruvate. | OMIM #614111; ClinVar; multiple case reports |
| Leigh syndrome | PDHB mutations can present as Leigh syndrome due to mitochondrial energy failure in the brain. | OMIM; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 25.3 | High |
| Skeletal muscle | 18.7 | High |
| Brain | 12.1 | Medium |
| Liver | 8.5 | Medium |
| Kidney | 7.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | High expression |
| HeLa | 19.1 | High expression |
| HepG2 | 15.6 | Medium expression |
| K562 | 12.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.904G>A (p.Gly302Ser) | Missense | Rare | Reduced E1 activity; associated with PDH deficiency |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein; severe PDH deficiency |
| c.1015C>T (p.Arg339*) | Nonsense | Rare | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PDHB mutations are loss-of-function, reducing or abolishing pyruvate dehydrogenase activity.
Gain of Function (GOF)
No gain-of-function mutations reported in PDHB.
Dominant Negative (DN)
No dominant-negative mechanism described for PDHB.
View complete mutation data：
Gene Ontology (GO)
| • pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739) | • pyruvate metabolic process (GO:0006090) |
| • mitochondrion (GO:0005739) | • pyruvate dehydrogenase complex (GO:0045254) |
Pathways
• Pyruvate metabolism (KEGG: hsa00620)
• Citric acid cycle (KEGG: hsa00020)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The PDHB protein (UniProt P11177) is a 359-amino acid mitochondrial protein that forms the E1 heterotetramer (alpha2beta2) of the pyruvate dehydrogenase complex. It binds thiamine pyrophosphate and catalyzes the decarboxylation of pyruvate. Defects in PDHB lead to metabolic acidosis and neurological impairment.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDHB Knockout HEK293 Cell Line | EDJ-KQ1521 | Human | 5162 | Details Get a Quote |
| PDHB Knockout A-549 Cell Line | EDJ-KQ21162 | Human | 5162 | Details Get a Quote |
| PDHB Knockout HCT 116 Cell Line | EDJ-KQ21163 | Human | 5162 | Details Get a Quote |
| PDHB Knockout HeLa Cell Line | EDJ-KQ21164 | Human | 5162 | Details Get a Quote |
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