Mohrenweiser H W, Novotny J E
Am J Hum Genet. 1982 May;34(3):425-33.
ACP1GUA-1, a variant of human erythrocyte acid phosphatase, exists as a polymorphism (allele frequency of .132) in the Guaymi Indians of Central America. This variant has an electrophoretic mobility similar to the common B- and C-type variants, but individuals of the ACP1GUA-1 phenotype have a level of enzyme activity only 27% of the activity expected for the ACP1C variant. The GUA-1 variant is more thermostable than is the B variant, and the order of responsiveness to the modulation of activity by purine analogs and folate is always (B)-(A)-(GUA-1). Thus, the GUA-1 variant is a low-activity variant with C-like regulatory properties. Erythrocytes from individuals of the ACP1GUA-1 phenotype have increased basal levels of glutathione reductase, and a larger fraction of the glutathione reductase protein is present as the holoenzyme, indicating increased levels of flavin adenine dinucleotide in the erythrocytes of these individuals. This is consistent with the suggestion that ACP1 has a physiological function as a flavin mononucleotide phosphatase.
ACP1GUA - 1是人类红细胞酸性磷酸酶的一种变体,在中美洲的瓜伊米印第安人中以多态性形式存在(等位基因频率为0.132)。这种变体的电泳迁移率与常见的B型和C型变体相似,但具有ACP1GUA - 1表型的个体的酶活性水平仅为ACP1C变体预期活性的27%。GUA - 1变体比B变体更耐热,对嘌呤类似物和叶酸调节活性的反应顺序始终是(B)-(A)-(GUA - 1)。因此,GUA - 1变体是一种具有类似C型调节特性的低活性变体。具有ACP1GUA - 1表型的个体的红细胞中谷胱甘肽还原酶的基础水平升高,并且谷胱甘肽还原酶蛋白的更大比例以全酶形式存在,表明这些个体的红细胞中黄素腺嘌呤二核苷酸水平升高。这与ACP1作为黄素单核苷酸磷酸酶具有生理功能的观点一致。