Which of the following cell is made deficient of hypoxanthine guanine phosphoribosyl transferase (HGPRT) enzyme
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Lesch-Nyhan syndrome is due to deficiency of HGPRT caused by HPRT1 mutation. Some mutations have been linked to gout, the risk of which is increased in hypoxanthine-guanine phosphoribosyltransferase deficiency. HPRT expression on the mRNA and protein level is induced by hypoxia inducible factor 1 (HIF1A).
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