PDHA2: Pyruvate Dehydrogenase E1 Subunit Alpha 2
Testis-specific pyruvate dehydrogenase complex component involved in energy metabolism and spermatogenesis
Gene Information Card
| Symbol | PDHA2 |
|---|---|
| Full Name | Pyruvate Dehydrogenase E1 Subunit Alpha 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q22.3 |
| NCBI Gene ID | 5160 ncbi.nlm.nih.gov/gene/5160 |
| Ensembl ID | ENSG00000138613 |
| UniProt ID | P29803 |
| OMIM ID | 179061 |
| HGNC ID | 8807 |
| Aliases | PDHE1-A type II, PDHA1L, PDHAL |
Description
PDHA2 encodes the testis-specific alpha subunit of the pyruvate dehydrogenase (PDH) complex, which catalyzes the conversion of pyruvate to acetyl-CoA in mitochondria. This isoform is expressed predominantly in spermatogenic cells and is essential for energy production during spermatogenesis. Mutations or altered expression may contribute to male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Deficiency in PDHA2 disrupts mitochondrial energy metabolism in germ cells, impairing sperm motility and maturation. | ClinVar, literature (PMID: 25640679) |
| Pyruvate dehydrogenase deficiency (testis-specific form) | Loss of PDHA2 function reduces PDH complex activity in testis, leading to metabolic dysfunction. | OMIM #179061, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Ovary | 0.1 | Not detected |
| Prostate | 0.1 | Not detected |
| Skin | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | 15.0 | High expression in germ cells |
| Spermatids | 12.0 | High expression in post-meiotic cells |
| Leydig cells | 0.5 | Low expression |
| Sertoli cells | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of function; associated with spermatogenic failure |
| c.200C>T (p.Pro67Leu) | Missense | Rare | Reduced enzyme activity; reported in infertile males |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro67Leu) reduce PDH complex activity in testis, impairing spermatogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; PDHA2 is autosomal and likely recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pyruvate metabolism (KEGG: hsa00620)
• Citrate cycle (TCA cycle) (KEGG: hsa00020)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
PDHA2 is a 390-amino acid protein (43 kDa) that forms the E1 alpha subunit of the pyruvate dehydrogenase complex. It is testis-specific and localizes to the mitochondrial matrix. The protein contains a thiamine pyrophosphate (TPP) binding domain and is essential for converting pyruvate to acetyl-CoA, linking glycolysis to the TCA cycle. In spermatogenic cells, PDHA2 provides energy for flagellar movement and acrosome formation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PDHA2 Knockout HEK293 Cell Line | EDJ-KQ1520 | Human | 5161 | Details Get a Quote |
| PDHA2 Knockout HeLa Cell Line | EDJ-KQ54110 | Human | 5161 | Details Get a Quote |
| PDHA2 Knockout A-549 Cell Line | EDJ-KQ62598 | Human | 5161 | Details Get a Quote |
| PDHA2 Knockout HCT 116 Cell Line | EDJ-KQ71071 | Human | 5161 | Details Get a Quote |
