Hexokinase: gene structure and mutations.

Abstract excerpt

Hexokinase (HK) deficiency is a rare red cell enzyme deficiency associated with hereditary non-spherocytic haemolytic anaemia; to date, only 17 affected families have been reported. Human HK has four major isozymes, each of which is encoded by a separate gene. Recent studies have shown that both ubiquitously expressed type I HK (HK-I) and erythroid-specific HK-R are expressed in erythrocytes, and that these...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amino Acid Sequence
• Share to Anemia, Hemolytic, Congenital Nonspherocytic
• Share to Erythrocytes