Humpath.com - Human pathology

Home > A. Molecular pathology > SOXs

SOXs

Friday 4 July 2003

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

- SOXs genes germ-line mutations

  • 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

Diagnostic use

- SOX10 in salivary gland tumors diagnosis

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