ID:G6PD_HUMAN DESCRIPTION: RecName: Full=Glucose-6-phosphate 1-dehydrogenase; Short=G6PD; EC=1.1.1.49; FUNCTION: Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing power. CATALYTIC ACTIVITY: D-glucose 6-phosphate + NADP(+) = 6-phospho-D- glucono-1,5-lactone + NADPH. PATHWAY: Carbohydrate degradation; pentose phosphate pathway; D- ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3. SUBUNIT: Homodimer or homotetramer. TISSUE SPECIFICITY: Isoform Long is found in lymphoblasts, granulocytes and sperm. POLYMORPHISM: The sequence shown is that of variant B, the most common variant. 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. MISCELLANEOUS: Has NADP both as cofactor (bound to the N-terminal domain) and as structural element bound to the C-terminal domain. SIMILARITY: Belongs to the glucose-6-phosphate dehydrogenase family. SEQUENCE CAUTION: Sequence=AAA63175.1; Type=Erroneous initiation; WEB RESOURCE: Name=G6PD; Note=G6PD deficiency resource; URL="http://rialto.com/g6pd/"; WEB RESOURCE: Name=G6PDdb; Note=G6PD mutation database; URL="http://www.bioinf.org.uk/g6pd/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/G6PD"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=G6PD";
Protein Domain and Structure Information
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