SOX18A 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.
SOX18 mutations are associated autosomal recessive and dominant forms of hypotrichosis-lymphedoema-telangiectasia.
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