The NHS gene provides instructions for making a protein containing four conserved nuclear localization signals. The encoded protein was detected in fetal and adult brain, lens, retina, retinal pigment epithelium, placenta, lymphocytes and fibroblasts. It functions during eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. It may function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. There is also evidence pointing to the important role played by NHS within the limbic system
Defects in this protein have been found to cause Nance-Horan syndrome, a rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and mental retardation. Mutations in the NHS gene have also been associated with a form of X-linked congenital cataract; Cataract 40.