Primary Identifier | MGI:2445185 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 100503085 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cullin family protein binding activity and ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including potassium ion homeostasis; protein modification process; and renal sodium ion absorption. Predicted to be located in cytoskeleton. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytosol. Is expressed in endocrine gland; genitourinary system; heart; lung; and nervous system. Used to study pseudohypoaldosteronism. Human ortholog(s) of this gene implicated in pseudohypoaldosteronism. Orthologous to human KLHL3 (kelch like family member 3). PHENOTYPE: Mice carrying a point mutation display salt-sensitive hypertension, hyperkalemia and metabolic acidosis. [provided by MGI curators] |