SOX8

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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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

References

  1. 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.
  2. 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 111037. PMID 10684944.
  3. 3.0 3.1 "Entrez Gene: SOX8 SRY (sex determining region Y)-box 8".

Further reading



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