HPRT1 Back

hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)

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NCBI Description of HPRT1
The protein encoded by this gene is a transferase, which catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway. Mutations in this gene result in Lesch-Nyhan syndrome or gout.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

HPRT1 is highly significantly mutated in
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HPRT1 is significantly mutated in
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HPRT1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for HPRT1