Anti-Glucose 6 Phosphate Dehydrogenase antibody (Biotin) (ab20606)

Function

Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power.

Tissue specificity

Isoform Long is found in lymphoblasts, granulocytes and sperm.

Pathway

Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3.

Involvement in disease

Defects in G6PD are the cause of chronic non-spherocytic hemolytic anemia (CNSHA) [MIM:305900]. Deficiency of G6PD is associated with hemolytic anemia in two different situations. First, in areas in which malaria has been endemic, G6PD-deficiency alleles have reached high frequencies (1% to 50%) and deficient individuals, though essentially asymptomatic in the steady state, have a high risk of acute hemolytic attacks. Secondly, sporadic cases of G6PD deficiency occur at a very low frequencies, and they usually present a more severe phenotype. Several types of CNSHA are recognized. Class-I variants are associated with severe NSHA; class-II have an activity <10% of normal; class-III have an activity of 10% to 60% of normal; class-IV have near normal activity.

Sequence similarities

Belongs to the glucose-6-phosphate dehydrogenase family.

Form

Cellular localisation centrosome, cytosol, internal side of plasma membrane, intracellular membrane-bounded organelle. There are 3 isoforms produced by alternative splicing.

Alternative names