SOX18 is a member of the SOX (SRY-related HMG-box) family of transcription factors that are involved in the regulation of embryonic development and in the determination of cell fate. This protein may act as a transcriptional regulator after forming a protein complex with other proteins. It plays a role in hair, blood vessel, and lymphatic vessel development. Mutations in SOX18 have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
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