This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic brain development and in determination of cell fate. The encoded protein acts as a transcriptional activator. Mutations in this gene have been associated with X-linked hypopituitarism (XH) and X-linked mental retardation. Patients with XH are male, have short stature, exhibit a mild form of mental retardation and present pan-hypopituitarism. 
Bowles J, Schepers G, Koopman P (2001). "Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators.". Dev. Biol.227 (2): 239–55. doi:10.1006/dbio.2000.9883. PMID11071752.
Schepers GE, Teasdale RD, Koopman P (2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families.". Dev. Cell3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID12194848.
Aota S, Nakajima N, Sakamoto R, et al. (2003). "Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene.". Dev. Biol.257 (1): 1–13. doi:10.1016/S0012-1606(03)00058-7. PMID12710953.
Dattani MT (2004). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene.". J. Pediatr. Endocrinol. Metab.16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID14714741.
Raverot G, Lejeune H, Kotlar T, et al. (2004). "X-linked sex-determining region Y box 3 (SOX3) gene mutations are uncommon in men with idiopathic oligoazoospermic infertility.". J. Clin. Endocrinol. Metab.89 (8): 4146–8. doi:10.1210/jc.2004-0191. PMID15292361.