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).
MGI Description
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]