Sex Determining Region Y Box Protein 8 (SOX8)

SOX8 encodes a member of the SOX 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 may be involved in brain development and function. Haploinsufficiency for this protein may contribute to the mental retardation found in haemoglobin H-related mental retardation.The deduced 446-amino acid protein shares 47% overall sequence identity with 2 other group E members, SOX9 and SOX10, and is identical except for 1 amino acid to the mouse Sox8 protein. Northern blot analysis detected expression of a 3.4-kb mRNA that was most abundant in brain and less abundant in heart, skeletal muscle, and pancreas.