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SRY (sex determining region Y)-box 8
Symbols SOX8 ; MGC24837
External IDs OMIM605923 MGI98370 HomoloGene7950 GeneCards: SOX8 Gene
Species Human Mouse
Entrez 30812 20681
Ensembl ENSG00000005513 ENSMUSG00000024176
UniProt P57073 Q04886
RefSeq (mRNA) 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 [1] [2]

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]

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  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. ^ a b "Entrez Gene: SOX8 SRY (sex determining region Y)-box 8". 

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