| Primary Identifier | MGI:1933754 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 83814 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables sodium channel inhibitor activity and ubiquitin protein ligase activity. Involved in ubiquitin-dependent protein catabolic process. Acts upstream of or within several processes, including negative regulation of systemic arterial blood pressure; regulation of bicellular tight junction assembly; and regulation of sodium ion transport. Predicted to be located in Golgi apparatus and endosome. Predicted to be active in cytoplasm. Predicted to colocalize with plasma membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; limb segment; and retina. Human ortholog(s) of this gene implicated in periventricular nodular heterotopia. Orthologous to human NEDD4L (NEDD4 like E3 ubiquitin protein ligase). PHENOTYPE: Mice homozygous for a null mutation display salt sensitive hypertension and high salt diet induced cardiac hypertrophy. A spontaneous mutation results in overt diabetes insipidus. Mice homozygous for a knock-out allele exhibit neonatal lethality with primary atelectasis. [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
