G6PD

This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

本基因编码葡萄糖-6-磷酸脱氢酶。该蛋白是一种由管家基因编码的细胞质酶，该管家基因定位于X染色体上，其主要功能是生成NADPH，这是抵抗氧化剂及参与还原性生物合成反应的关键电子供体。G6PD因其遗传多样性而备受瞩目。许多G6PD变异体已被描述，这些变异体大多由错义突变产生，具有广泛的酶活性水平及相关临床症状。G6PD缺乏可能导致新生儿黄疸、急性溶血或严重的非球形细胞性溶血性贫血。针对该基因，已发现两种转录变体，分别编码不同的同工型。[由RefSeq提供，2008年7月]