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 regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency. [provided by RefSeq, Jul 2008].
Mojsin, Stevanovic: "PBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter region." in: The Biochemical journal, Vol. 425, Issue 1, pp. 107-16, (2009) (PubMed).