該基因編碼參與調節胚胎發育和確定細胞命運的轉錄因子SOX（SRY相關HMG盒）家族的一個成員。編碼蛋白與其它蛋白形成蛋白復合物后可作為轉錄激活劑。該蛋白作為核質穿梭蛋白，對神經嵴和周圍神經系統發育具有重要意義。該基因突變與Waardenburg-Shah和Waardenburg-Hirschsprung病有關。
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease.