Primary Identifier | MGI:98907 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 22262 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables urate oxidase activity. Involved in several processes, including allantoin metabolic process; nucleobase-containing small molecule metabolic process; and urate catabolic process. Located in mitochondrion. Is active in peroxisome. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; respiratory system; and sensory organ. Used to study hyperuricemia; kidney disease; and nephrogenic diabetes insipidus. Orthologous to human UOX (urate oxidase (pseudogene)). PHENOTYPE: Homozygous null mutants exhibit marked hyperuricemia and urate nephropathy. Most mutants die prior to four weeks of age. Homozygotes for a large paracentric inversion disrupting this same gene exhibit a similar phenotype. [provided by MGI curators] |