SOX18

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SOX18
Identifiers
Aliases SOX18, HLTS, HLTRS, SRY-box 18
External IDs MGI: 103559 HomoloGene: 7546 GeneCards: 54345
RNA expression pattern
PBB GE SOX18 219568 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_018419

NM_009236

RefSeq (protein)

NP_060889.1

NP_033262.2

Location (UCSC) Chr 20: 64.05 – 64.05 Mb Chr 2: 181.67 – 181.67 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor SOX-18 is a protein that in humans is encoded by the SOX18 gene.[1][2]

Function[edit]

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.[2]

Interactions[edit]

SOX18 has been shown to interact with MEF2C.[3]

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: SO X18 SRY (sex determining region Y)-box 18".  line feed character in |title= at position 16 (help)
  3. ^ 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[edit]

External links[edit]

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