PGLS: 6-Phosphogluconolactonase
A key enzyme in the pentose phosphate pathway, involved in cellular redox balance and NADPH production.
Gene Information Card
| Symbol | PGLS |
|---|---|
| Full Name | 6-phosphogluconolactonase |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 25796 ncbi.nlm.nih.gov/gene/25796 |
| Ensembl ID | ENSG00000130313 |
| UniProt ID | O95336 |
| OMIM ID | 604951 |
| HGNC ID | 8903 |
| Aliases | 6PGL, MGC8730 |
Description
The PGLS gene encodes 6-phosphogluconolactonase, an enzyme that catalyzes the hydrolysis of 6-phosphogluconolactone to 6-phosphogluconate in the pentose phosphate pathway. This reaction is essential for NADPH production and ribose-5-phosphate synthesis, critical for anabolic reactions and antioxidant defense.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemolytic anemia | Deficiency in PGLS leads to impaired NADPH generation, increasing oxidative stress in erythrocytes and causing hemolysis. | ClinVar, OMIM |
| Cancer (various) | Altered PGLS expression may affect tumor cell proliferation and redox balance, though direct causal evidence is limited. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.3 | Hepatocellular carcinoma |
| HEK293 | 11.7 | Embryonic kidney |
| K562 | 9.4 | Leukemia |
| A549 | 7.8 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Reduced enzyme activity, associated with hemolytic anemia |
| c.458G>A (p.Arg153His) | Missense | <0.01% | Decreased stability and catalytic efficiency |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Arg113Trp and p.Arg153His reduce or abolish enzyme activity, impairing NADPH production and increasing oxidative stress.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PGLS.
Dominant Negative (DN)
No dominant-negative effects have been described for PGLS mutations.
View complete mutation data：
Gene Ontology (GO)
| • carbohydrate metabolic process (GO:0005975) | • pentose-phosphate shunt (GO:0006098) |
| • phosphatase activity (GO:0016791) | • identical protein binding (GO:0042802) |
| • cytosol (GO:0005829) |
Pathways
• Pentose phosphate pathway (KEGG: hsa00030)
• Glutathione metabolism (Reactome: R-HSA-71384)
Protein Summary
6-phosphogluconolactonase is a 258-amino acid protein that belongs to the glucosamine-6-phosphate isomerase/6-phosphogluconolactonase family. It is a homodimer localized in the cytosol. The enzyme catalyzes the second step of the oxidative phase of the pentose phosphate pathway, converting 6-phosphogluconolactone to 6-phosphogluconate. This reaction is crucial for NADPH generation, which protects cells from oxidative damage and supports biosynthetic processes.
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