Primary Identifier | MGI:1915841 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 68591 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable molybdenum cofactor sulfurtransferase activity. Involved in molybdopterin cofactor biosynthetic process. Is expressed in naris and olfactory epithelium. Used to study obstructive nephropathy and xanthinuria type II. Human ortholog(s) of this gene implicated in xanthinuria type II. Orthologous to human MOCOS (molybdenum cofactor sulfurase). PHENOTYPE: Mice homozygous for a null allele exhibit premature death, renal failure due to obstructive nephropathy with xanthinuria, xanthine deposits, cystic tubular dilation, Tamm-Horsfall protein deposits, tubular cell necrosis with neutrophils, occasional hydronephrosis with urolithiasis, and altered metabolism of purines, amino acids, and phospholipids. [provided by MGI curators] |