Literature summary for 2.4.2.8 extracted from

Nguyen, K.V.; Naviaux, R.K.; Nyhan, W.L.
Lesch-Nyhan disease I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP) (2020), Nucleosides Nucleotides Nucleic Acids, 39, 905-922 .

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Cloned(Commentary)

Cloned (Comment)	Organism
gene HPRT1, construction of expression vectors for recombinant expression of HPRT1, recombinant expression of GFP-tagged enzyme in HEK-293 cells on the outside of the plasma membrane, connected via the glycosyl-phosphatidylinositol, GPI, anchor on the cell surface, fluorescence analysis, method, overview	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P00492	-	-

Synonyms

Synonyms	Comment	Organism
HGPRT	-	Homo sapiens
HPRT1	-	Homo sapiens
hypoxanthine phosphoribosyltransferase 1	-	Homo sapiens
hypoxanthine-guanine phosphoribosyltransferase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	the Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The role of the amyloid precursor protein (APP) gene in neuropathology is associated with HGprt-deficiency in LND. Classical features of LND include hyperuricemia and its sequelae (gout, nephrolithiasis, and tophi), motor disability (dystonia, chorea, and spasticity), intellectual impairment, and self-injurious behaviors such as self-biting, self-hitting, eye poking, and others. Self-injurious behavior is universal in LND. It usually emerges before 4 years of age, but may be delayed until the second decade of life. Etiology involves a mutation of the housekeeping hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene that is located on the long arm of the X chromosome (Xq26.1)	Homo sapiens

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Release 2023.1 (January 2023)