SOX18

SRY (sex determining region Y)-box 18
Identifiers
Symbols SOX18 ; HLTRS; HLTS
External IDs OMIM: 601618 MGI: 103559 HomoloGene: 7546 GeneCards: SOX18 Gene
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 54345 20672
Ensembl ENSG00000203883 ENSMUSG00000046470
UniProt P35713 P43680
RefSeq (mRNA) 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

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

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.[2]

Interactions

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

See also

References

  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. 1 2 "Entrez Gene: SOX18 SRY (sex determining region Y)-box 18".
  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

External links

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


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