Bcmb 3100 exam 1 quizzes - Study guides, Class notes & Summaries

Briefly describe Bartter's syndrome and the role of the gene KCNJ1. - Bartter's syndrome is a genetically inherited disease that causes excess salt loss and the hardening of kidney tissue. Type II Bartter's syndrome, which is antenatal, is caused by a mutation in the KCNJ1 gene. Mutations in KCNJ1 gene change/delete amino acids in ROMK which results in a dysfunctional/nonfunctional protein. ROMK moves potassium across kidney cell membranes so dysfunctional ROMK causes potassium deficiency i...