| 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 8.0.0) Enables sodium channel inhibitor activity and ubiquitin protein ligase activity. Involved in regulation of postsynaptic neurotransmitter receptor internalization; regulation protein catabolic process at postsynapse; and 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 monoatomic ion transport. Is active in glutamatergic synapse. 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
