title: Glucose-6-phosphate dehydrogenase Porbandar: a new slow variant with slightly reduced activity in a South African family of Indian descent.
abstract: A new variant of the red cell enzyme glucose-6-phosphate dehydrogenase has been detected in a South African male of Indian descent and in several of his relatives. The enzyme variant is characterized by slow electrophoretic mobility, low Michaelis constants for the substrates glucose-6-phosphate and NADP, and increased utilization of the substrate analogues 2-deoxyglucose-6-phosphate and deamino-NADP relative to the normal (B+) enzyme. There is no evidence that the enzyme variant, for which the name "G6PD Porbandar" is suggested, is associated with any hematological abnormality.
mesh_terms: D000740:Anemia / Q000235:genetics; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D005796:Genes; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D005958:Glucosephosphates / Q000378:metabolism; D006801:Humans; D007194:India / Q000208:ethnology; D007700:Kinetics; D008297:Male; D010375:Pedigree; D013019:South Africa
chemical_list: D005958:Glucosephosphates; D005954:Glucosephosphate Dehydrogenase