H6PD
Description
The H6PD gene, located on chromosome 12, encodes for the enzyme hexose-6-phosphate dehydrogenase (H6PD). This enzyme plays a crucial role in the pentose phosphate pathway (PPP), a metabolic pathway that generates NADPH, a crucial reducing agent for various cellular processes, and pentose sugars, essential for nucleotide biosynthesis. H6PD‘s activity is tightly regulated by the availability of NADP+ and glucose-6-phosphate, ensuring proper balance between glucose metabolism and NADPH production.
Associated Diseases
- Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency): A genetic disorder caused by mutations in the H6PD gene, leading to reduced H6PD activity and NADPH production. This can cause oxidative stress, leading to hemolytic anemia, particularly under conditions of oxidative stress such as infections or drug exposure.
- Other potential associations: Some studies suggest a possible link between H6PD gene variations and certain types of cancer, particularly hematological malignancies. However, more research is needed to confirm these associations.
Did you know?
G6PD deficiency is the most common human enzyme deficiency, affecting millions worldwide, with significant variations in prevalence across different populations.
