Three-dimensional modeling of glucose-6-phosphate dehydrogenase-deficient variants from German ancestry.

ABSTRACT:

Background

Loss of function of dimeric glucose-6-phosphate dehydrogenase (G6PD) represents the most common inborn error of metabolism throughout the world affecting an estimated 400 million people. In Germany, this enzymopathy is very rare.

Methodology/principal findings

On the basis of G6PD crystal structures, we have analyzed six G6PD variants of German ancestry by three-dimensional modeling. All mutations present in the German population are either close to one of the three G6P or NADP(+) units or to the interface of the two monomers. Two of the three mutated amino acids of G6PD Vancouver are closer to the binding site of NADP(+). The G6PD Aachen mutation is also closer to the second NADP(+) unit. The G6PD Wayne mutation is closer to the G6P binding region. These mutation

SUBMITTER: Kiani F 

PROVIDER: S-EPMC1913203 | biostudies-literature | 2007 Jul

REPOSITORIES: biostudies-literature