Automated description from the Alliance of Genome Resources (Release 7.5.0)
Enables guanine phosphoribosyltransferase activity; hypoxanthine phosphoribosyltransferase activity; and identical protein binding activity. Involved in AMP salvage; GMP salvage; and IMP salvage. Acts upstream of or within several processes, including grooming behavior; neuron differentiation; and purine nucleobase metabolic process. Located in cytoplasm. Is active in cytosol. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study Lesch-Nyhan syndrome; nephrotic syndrome; and tauopathy. Human ortholog(s) of this gene implicated in HRPT-related hyperuricemia and Lesch-Nyhan syndrome. Orthologous to human HPRT1 (hypoxanthine phosphoribosyltransferase 1).
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