SOX3

SOX3

A gene on chromosome Xq27.1 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which regulate embryonic development and determine cell fate. SOX3 may act as a transcription regulator after forming a complex with other proteins.
 
Molecular pathology
SOX3 mutations are associated with X-linked mental retardation with growth hormone deficiency.
References in periodicals archive ?
Several transcription factors have been identified that can promotes permatogonial differentiation (DMRT1, NGN3, SOHLH1, SOHLH2, SOX3, and STAT3), some of which may affect the fate of SSCs either to differentiate or to promote later spermatogonial differentiation steps.
Mutations in the genes HESX1, SOX2, SOX3 and OTX2 have been implicated.
SOX3 is a strong candidate because other members of this gene family have been shown to play a role in hair growth.
The team of researchers found that mutations affecting the SOX3 gene caused it to be abnormally turned on in the embryonic gonad, leading to testis development in human DSD patients and mice.
Surprisingly, we found that the SOX3 gene could substitute for the SRY gene in XX female embryos, resulting in the development of testes, male genitalia and a masculine appearance in these patients," said Sinclair.
The find will not only help explain the XX cases of DSD, but also provide new insight into the evolution of the SRY gene, which is thought to have evolved from the SOX3 gene.
Polyalanine expansions have been described in 9 genes (HOXD13, RUNX2, ZIC2, HOXA13, FOXL2, SOX3, ARX, PHOX2B, and PABPNI) as the cause of congenital defects (8, 9).