SOX18

SOX18

A gene on chromosome 20q13.33 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which regulate embryonic development and determine cell fate. SOX18 may act as a transcription regulator after forming a complex with other proteins; it plays a role in the development of hair, blood vessels and lymphatic vessels.

Molecular pathology
SOX18 mutations are associated autosomal recessive and dominant forms of hypotrichosis-lymphedoema-telangiectasia.
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References in periodicals archive ?
Genomic analysis of 20 human SOX genes identified a mutation in the HMG-box of SOX18 that exchanges glutamic acid (E) for lysine (K).
Hoppler, "Genome-wide transcriptomics analysis identifies sox7 and sox18 as specifically regulated by gata4 in cardiomyogenesis," Developmental Biology, vol.
In addition, it has been reported that lymphatic endothelial cells express transcription factor Sox18, VEGFR3, neuropilin-2, Tie-2, podoplanin, VE-cadherin (=CD144), Flk-1, and other markers, however, that are not exclusively specific for LEC.
Yapilan calismalarda lenfatik sistemin gelisiminde VEGFR3 (vaskuler endotelyal buyume faktor reseptor 3), PROX1 (prospero-iliskili homeobox-transkripsiyonel faktor), FOXC2 (forkhead transkripsiyonel faktor) ve SOX18 genlerinin rol oynadigi saptanmistir.