| Primary Identifier | MGI:98973 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 22436 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables oxidoreductase activity, acting on CH or CH2 groups. Involved in allantoin metabolic process; amide catabolic process; and purine-containing compound catabolic process. Acts upstream of or within iron-sulfur cluster assembly; lactation; and regulation of epithelial cell differentiation. Located in sarcoplasmic reticulum. Is active in cytosol. Is expressed in several structures, including adrenal gland; genitourinary system; intestine; liver; and spleen. Human ortholog(s) of this gene implicated in several diseases, including Lesch-Nyhan syndrome; artery disease (multiple); chronic kidney disease; hyperuricemia; and xanthinuria type I. Orthologous to human XDH (xanthine dehydrogenase). PHENOTYPE: Homozygotes for a null allele are small and die prematurely while heterozygous females show a lactation defect. Most homozygotes for another null allele die within the first month of renal failure associated with uric acid depletion, renal tubular damage, inflammation, fibrosis and oxidative stress. Homozygosity for mutations that lock the enzyme into the xanthine oxidase (XO) form leads to increased number of peritoneal macrophages and increased ROS production after their stimulation. This in turn stimulates xenografted tumor growth. [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
