sry-box-18 protein; transcription factor SOX-18 (sox18)

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^[1]^[2]^[3]

Function

binds to the consensus sequence 5'-AACAAAG-3' & is able to trans-activate transcription via this site

Structure

contains 1 HMG box DNA-binding domain

Compartment

nucleus (putative)

Pathology

defects in SOX18 are the cause of hypotrichosis-lymphedema-telangiectasia syndrome

Notes

originally termed SOX8^[3]

More general terms

sox protein

References

↑ UniProt http://www.uniprot.org/uniprot/P35713.html
↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=SOX18
↑ ^3.0 ^3.1 Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A. A conserved family of genes related to the testis determining gene, SRY. Nucleic Acids Res. 1992 Jun 11;20(11):2887 PMID: https://www.ncbi.nlm.nih.gov/pubmed/1614875

Database

Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5434
UniProt: http://www.uniprot.org/uniprot/P35713.html
Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=54345

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