WFS1 and Waardenburg syndrome type 1: Osman et al. (2003) proposed that wolframin may play an important role in the regulation of intracellular Ca2+ homeostasis. In addition, Zatyka et al. (2008) noted that an interaction with WFS1 is essential for Na+/K+ ATPase beta-1 subunit maturation in the ER and that the loss of this interaction may contribute to the pathogenesis of WS1.