Worm gene name:  hypothetical protein (NP_493545)
Worm sequence name:  Y105E8B.5 (ortholog of human HPRT1)
Related human gene:  hypoxanthine phosphoribosyltransferase 1
Associated human disease:  Lesch-Nyhan
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Left primer sequence:  ctcagacatccacgctgaaa
Right primer sequence:  aacatccacgacacgtttga
Size of PCR product:  367
Brief description:  In humans, 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. Lesh-Nyhan is an X-linked disorder, affecting mostly males (about 1 in 380,000 people). Inability to recycle purines results in bizarre movements, deep tendon reflexes, and self-mutilation behavior. It may also result in gout-like swelling of joints and/or kidney stones due to a buildup of uric acid. In worms, Y105E8B.5 gave pehnotypes such as reduced or varied fat content, variations in cell secretion, different transgene expression patterns and expression levels.
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