Gene entry
PDHB
pyruvate dehydrogenase E1 subunit beta
- Chromosome
- 3
- Cytoband
- 3p14.3
- Variants (rsID)
- 3
PDHB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p14.3). Its official name is “pyruvate dehydrogenase E1 subunit beta”. The reference table lists 3 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs11542399Benignsingle nucleotide variantPyruvate dehydrogenase E1-beta deficiency|Pyruvate dehydrogenase complex deficiency
- rs201243189Benignsingle nucleotide variantPyruvate dehydrogenase E1-beta deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.