Nance Horan Syndrome Protein (NHS)

The NHS gene encodes 2 mRNA isoforms; the major isoform encodes a deduced 1,630-amino acid protein and the minor isoform encodes a deduced N-terminus truncated 1,335-amino acid protein.

The NHS protein contains 4 conserved nuclear localization signals. Northern blot analysis detected expression of 2 major transcripts of approximately 8.7 kb and 7.7 kb in all human adult and fetal tissues tested. Expression studies in mouse showed that the Nhs gene is broadly expressed throughout brain development. In situ hybridization studies showed that Nhs expression is developmentally regulated in a range of mouse embryonic tissues, including the lens, brain, craniofacial mesenchyme, and dental primordia.