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 7.1.0) 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 negative regulation of pancreatic juice secretion and positive regulation of systemic arterial blood pressure. Located in cytoplasm. Part of protein-containing complex. 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] |