| Primary Identifier | MGI:97365 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 18950 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables guanosine phosphorylase activity and purine-nucleoside phosphorylase activity. Involved in allantoin metabolic process; amide catabolic process; and nucleobase-containing small molecule metabolic process. Acts upstream of or within several processes, including nucleobase-containing small molecule metabolic process; positive regulation of lymphocyte activation; and urate biosynthetic process. Is active in cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study purine nucleoside phosphorylase deficiency. Human ortholog(s) of this gene implicated in purine nucleoside phosphorylase deficiency and purine-pyrimidine metabolic disorder. Orthologous to human PNP (purine nucleoside phosphorylase). PHENOTYPE: Nullizygous mice show impaired thymocyte differentiation, T cell function and mitochondrial DNA repair, altered lymphocyte subpopulations and metabolism, and enhanced thymocyte apoptosis and sensitivity to gamma-irradiation. ENU-induced mutants show a gradual decline in T cell number and function. [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
