Biology:SOX8

From HandWiki
Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.[1][2][3]

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 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 (ATR-16 syndrome).[3]

See also

  • SOX genes

References

  1. "The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome". Genomics 63 (1): 108–16. Apr 2000. doi:10.1006/geno.1999.6060. PMID 10662550. 
  2. "Cloning and characterisation of the Sry-related transcription factor gene Sox8". Nucleic Acids Res 28 (6): 1473–80. Apr 2000. doi:10.1093/nar/28.6.1473. PMID 10684944. 
  3. 3.0 3.1 "Entrez Gene: SOX8 SRY (sex determining region Y)-box 8". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=30812. 

Further reading