Abstract
Glycinamide ribonucleotide (GAR) synthetase is the second enzyme of. the purine biosynthetic pathway (1). The gene coding for the enzyme has been regionally assigned to human chromosme 21, specifically the q22 band (2,3). This region of chromosme 21 when present in the trisomy state has been shown to lead to the Down Syndrome phenotype (3). It may be that an overproduction of this enzyme plays a role in the development of this disease as hyperuricemia has been associated with Down Syndrome (4).
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© 1986 Plenum Press, New York
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Hards, R.G., Graw, S.L., Patterson, D. (1986). Purification of Mammalian Glycinamide Ribonucleotide (GAR) Synthetase. In: Nyhan, W.L., Thompson, L.F., Watts, R.W.E. (eds) Purine and Pyrimidine Metabolism in Man V. Advances in Experimental Medicine and Biology, vol 195B. Springer, New York, NY. https://doi.org/10.1007/978-1-4684-1248-2_50
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DOI: https://doi.org/10.1007/978-1-4684-1248-2_50
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