| Primary Identifier | MGI:96217 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 15452 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) 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). PHENOTYPE: Homozygotes for null mutations exhibit a four to fivefold increase in de novo purine synthesis but are phenotypically normal. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
