New research published in the journal Function identifies NKCC1, the protein responsible for moving sodium, potassium and chloride into cells, to be a cause of disease and dysfunction throughout the body. NKCC1 is encoded by the gene SLC12A2.
Human and mouse studies found that disruption or mutation of SLC12A2 led to a wide range of medical conditions, including intestinal and pancreatic obstruction and infection, deafness, lung disease, low muscle tone (hypotonia), abnormal facial features and neurodevelopmental disorders.
“Information here should prompt genetic testing when early symptoms of deafness, hypotonia, lung and intestinal obstruction are encountered; and the study of additional cases can be translated to a more personalized and scientifically driven approach for treating these ailments,” the authors wrote.
Read the full article, “NKCC1: newly found as a human disease-causing ion transporter.” Contact the APS Communications Office to schedule an interview with the research team.