| 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. [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
