Basic Information

Symbol
PDHB
RNA class
mRNA
Alias
Pyruvate Dehydrogenase E1 Subunit Beta PDHE1B E1beta Pyruvate Dehydrogenase E1 Component Subunit Beta, Mitochondrial Pyruvate Dehydrogenase (Lipoamide) Beta EC 1.2.4.1 PDHE1-B PHE1B Pyruvate Dehydrogenase, E1 Beta Polypeptide Epididymis Secretory Sperm Binding Protein Pyruvate Dehydrogenase E1 Beta Subunit PDHBD
Location (GRCh38)
3:58427630-58434012
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_000925.4
Sequence length
1507.0 nt
GC content
0.4433

Transcripts

ID Sequence Length GC content
NM_000925.4 NCBI
AGCGGAUAGAGGACACGACCAAGAUGGCGGCGGUGUCUGGCUUGGUGCG… 1507 nt 0.4433
NM_001173468.2 NCBI
AGCGGAUAGAGGACACGACCAAGAUGGCGGCGGUGUCUGGCUUGGUGCG… 1453 nt 0.4377
NM_001315536.2 NCBI
AGCGGAUAGAGGACACGACCAAGAUGGCGGCGGUGUCUGGCUUGGUGCG… 1453 nt 0.4336
Summary

The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]

Forensic Context

A study in humans identified PDHB as one of six key differentially expressed cuproptosis-related genes (DECuGs) with diagnostic biomarker potential for sepsis, showing statistically significant dysregulation in validation cohorts [Wang et al. DOI:10.1016/j.heliyon.2024.e27379]. Single-cell RNA sequencing analysis of peripheral blood mononuclear cells from septic patients demonstrated that the PDHB had a major distribution in monocytes, T cells, B cells, and NK cells, and receiver operating characteristic curves confirmed the six-gene signature, including PDHB, had excellent diagnostic discrimination values.