{"symbol":"SOX18","synonyms":["HLTS","HLTRS"],"name":"SRY (sex determining region Y)-box 18","description":"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. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":54345,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/54345","proteins":[{"symbol":"SOX18_HUMAN","href":"/api/1.0/protein/SOX18_HUMAN"}],"hgncRootFamilies":[{"name":"SRY (sex determining region Y)-boxes (SOX)","href":"/api/1.0/gene_family/SRY+%28sex+determining+region+Y%29-boxes+%28SOX%29"}]}