PGD (Phosphogluconate Dehydrogenase) Gene
Key enzyme in the pentose phosphate pathway, involved in cellular redox balance and implicated in metabolic disorders and cancer.
Gene Information Card
| Symbol | PGD |
|---|---|
| Full Name | Phosphogluconate Dehydrogenase |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 5226 ncbi.nlm.nih.gov/gene/5226 |
| Ensembl ID | ENSG00000142657 |
| UniProt ID | P52209 |
| OMIM ID | 172200 |
| HGNC ID | 8891 |
| Aliases | 6PGD, 6-phosphogluconate dehydrogenase, decarboxylating |
Description
The PGD gene encodes 6-phosphogluconate dehydrogenase, an enzyme in the pentose phosphate pathway that catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose-5-phosphate, generating NADPH. This enzyme is critical for cellular redox homeostasis, biosynthesis of ribose-5-phosphate for nucleotide synthesis, and protection against oxidative stress. Variants in PGD are associated with 6-phosphogluconate dehydrogenase deficiency and have been implicated in cancer metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 6-Phosphogluconate Dehydrogenase Deficiency | Loss-of-function mutations reduce enzyme activity, impairing NADPH production and antioxidant capacity, leading to hemolytic anemia. | ClinVar, OMIM |
| Cancer (various types) | Altered PGD expression and activity support anabolic metabolism and redox balance in tumor cells; somatic mutations may contribute to metabolic reprogramming. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 10.2 | Medium |
| Kidney | 9.8 | Medium |
| Heart | 7.1 | Low |
| Brain | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| MCF7 | 11.5 | Breast cancer cell line |
| A549 | 9.2 | Lung cancer cell line |
| K562 | 6.8 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.404C>T (p.Thr135Ile) | Missense | <0.01% | Reduced enzyme activity, associated with deficiency |
| c.617G>A (p.Arg206His) | Missense | <0.01% | Decreased catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Thr135Ile, p.Arg206His) reduce or abolish enzymatic activity, leading to 6-phosphogluconate dehydrogenase deficiency.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PGD.
Dominant Negative (DN)
No evidence of dominant-negative effects for PGD mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Pentose phosphate pathway (KEGG: hsa00030)
• Glutathione metabolism (KEGG: hsa00480)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The PGD protein (6-phosphogluconate dehydrogenase) is a homodimeric enzyme that catalyzes the third step of the pentose phosphate pathway. It converts 6-phosphogluconate to ribulose-5-phosphate with concomitant reduction of NADP+ to NADPH. The enzyme is essential for generating NADPH for reductive biosynthesis and antioxidant defense, and for producing ribose-5-phosphate for nucleotide synthesis. Its structure includes a cofactor-binding domain and a substrate-binding domain, with active site residues critical for catalysis.
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