Primary Identifier | MGI:2442092 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 232341 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein serine/threonine kinase activity. Involved in several processes, including cell surface receptor signaling pathway; intracellular chloride ion homeostasis; and lymphocyte migration into lymph node. Acts upstream of or within several processes, including negative regulation of GTPase activity; negative regulation of pancreatic juice secretion; and protein phosphorylation. Part of protein-containing complex. Is active in cytoplasm. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in hereditary sensory and autonomic neuropathy type 2A; hereditary sensory neuropathy; hypertension; and pseudohypoaldosteronism. Orthologous to human WNK1 (WNK lysine deficient protein kinase 1). PHENOTYPE: Homozygous mutant mice die before birth, whereas heterozygotes survive and exhibit decreased blood pressure. Mice homozygous for an allele that does not produce the kidney isoform exhibit a slight increase in systemic arterial diastolic blood pressure and reduced sensitivity to amiloride. [provided by MGI curators] |