Understanding APRT: Function, Significance, and Associated Conditions

APRT

transfers adenosine to PRPP to form AMP

APRT stands for Adenine Phosphoribosyltransferase, which is an enzyme involved in the purine salvage pathway. The purine salvage pathway is a biochemical pathway that converts purines, which are building blocks of DNA and RNA, into their respective nucleotides. The pathway is important because it allows cells to recycle purines that have been degraded rather than having to synthesize them de novo.

APRT is specifically involved in the conversion of adenine to AMP (adenosine monophosphate) via the addition of a phosphoribose group. This conversion helps prevent the buildup of excess adenine in the body, which can be toxic, and adds to the pool of AMP available for nucleotide synthesis.

Mutations in the APRT gene can lead to a condition called APRT deficiency, which is characterized by the formation of kidney stones due to the accumulation of 2,8-dihydroxyadenine (DHA) crystals in the urine. This condition can be managed through a low-purine diet and medication to prevent the formation of DHA crystals.

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