| Primary Identifier | MGI:102674 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 22242 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable IgG binding activity. Involved in metanephric nephron tubule development and monoatomic ion homeostasis. Acts upstream of or within with a positive effect on protein phosphorylation. Acts upstream of or within several processes, including intracellular monoatomic cation homeostasis; kidney development; and response to bacterium. Located in several cellular components, including apical plasma membrane; endoplasmic reticulum; and extracellular space. Is expressed in urinary system. Used to study familial juvenile hyperuricemic nephropathy and kidney disease. Human ortholog(s) of this gene implicated in familial juvenile hyperuricemic nephropathy. Orthologous to human UMOD (uromodulin). PHENOTYPE: Homozygous inactivation of this gene causes renal dysfunction and increased susceptibility to bladder infection, and may lead to renal calcinosis and stone formation. Homozygotes for an ENU-induced allele exhibit renal dysfunction and alterations in ureahandling, energy, bone, and lipid metabolism. [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
