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SOX18 is 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.
Gene Name: | SRY (sex determining region Y)-box 18 |
Family/Subfamily: | Transcription factor |
Synonyms: | SOX18, Transcription factor SOX-18, Sox-8, SRY-box 18, HLTS |
Target Sequences: | NM_018419 NP_060889.1 P35713 |
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