BPGM

Description

The BPGM gene, located on chromosome 19, encodes a protein known as bisphosphoglycerate mutase. This enzyme plays a crucial role in red blood cell metabolism, specifically in the conversion of 1,3-bisphosphoglycerate to 2,3-bisphosphoglycerate. This process is vital for oxygen delivery to tissues by influencing the affinity of hemoglobin for oxygen.

Associated Diseases

• Hemolytic anemia
• Red blood cell disorders
• Congenital dyserythropoietic anemia type II
• Increased risk of thrombosis

Did you know?

Mutations in the BPGM gene can lead to a condition called hereditary persistence of fetal hemoglobin, where the body continues to produce fetal hemoglobin after birth. This condition can be beneficial as fetal hemoglobin has a higher affinity for oxygen, which may offer some protection against anemia.