SOXs
The SOXs are a family of high-mobility group (HMG) domain proteins. SOXs constitute a family of transcription factors involved in differentiation.
Members
| SOX1 | SOX2 | SOX3 | SOX4 | SOX5 | SOX6 | SOX7 | SOX8 | SOX9 | SOX10 |
| SOX11 | SOX12 | SOX13 | SOX14 | SOX15 | SOX16 | SOX17 | SOX18 |
PAthology
SOX2 mutations : microphtalmia, anophtalmia
SOX3 mutations (Xq26-q27) : X-linked mental retardation with growth hormone deficiency
SOX18 mutations : recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
References
Koopman P. Sex determination: a tale of two Sox genes. Trends Genet. 2005 Jul;21(7):367-70. PMID: 15949865
Kamachi Y, Uchikawa M, Kondoh H. Pairing SOX off: with partners in the regulation of embryonic development. Trends Genet. 2000 Apr;16(4):182-7. PMID: 10729834