FAM111A is dispensable for electrolyte homeostasis in mice.

ABSTRACT: Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have reported FAM111A to function in antiviral response and DNA replication, its role in regulating electrolyte homeostasis remains unknown. In this study, we assessed the role of FAM111A in the regulation of serum electrolyte balance using a Fam111a knockout (Fam111a^-/-) C57BL/6 N mouse model. Fam111a^-/- mice displayed normal weight and serum parathyroid hormone (PTH) concentration and exhibited unaltered magnesium, calcium and phosphate levels in serum and 24-hour urine. Expression of calciot

SUBMITTER: Ilenwabor BP 

PROVIDER: S-EPMC9205974 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature