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NM_014587

NM_011447

RefSeq (protein)

NP_055402

NP_035577

Location (UCSC) Chr 16: 0.98 – 0.99 Mb Chr 17: 25.57 – 25.57 Mb PubMed search [3] [4] Wikidata
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Transcription factor SOX-8 is a protein that in humans is encoded by the SOX8 gene.[5][6][7]

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).[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000005513 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024176 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G (Apr 2000). "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. doi:10.1006/geno.1999.6060. PMID 10662550. 
  6. ^ Schepers GE, Bullejos M, Hosking BM, Koopman P (Apr 2000). "Cloning and characterisation of the Sry-related transcription factor gene Sox8". Nucleic Acids Res. 28 (6): 1473–80. doi:10.1093/nar/28.6.1473. PMC 111037Freely accessible. PMID 10684944. 
  7. ^ a b "Entrez Gene: SOX8 SRY (sex determining region Y)-box 8". 

Further reading