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NM_018419

NM_009236

RefSeq (protein)

NP_060889

NP_033262

Location (UCSC) Chr 20: 64.05 – 64.05 Mb Chr 2: 181.67 – 181.67 Mb PubMed search [3] [4] Wikidata
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Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[5][6]

Function

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 regulator after forming a protein complex with other proteins. This protein plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.[6]

Interactions

SOX18 has been shown to interact with MEF2C.[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000203883 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000046470 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Azuma T, Seki N, Yoshikawa T, Saito T, Masuho Y, Muramatsu M (July 2000). "cDNA cloning, tissue expression, and chromosome mapping of human homolog of SOX18". J. Hum. Genet. 45 (3): 192–5. doi:10.1007/s100380050210. PMID 10807548. 
  6. ^ a b "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18". 
  7. ^ Hosking BM, Wang SC, Chen SL, Penning S, Koopman P, Muscat GE (September 2001). "SOX18 directly interacts with MEF2C in endothelial cells". Biochem. Biophys. Res. Commun. 287 (2): 493–500. doi:10.1006/bbrc.2001.5589. PMID 11554755. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.