{"symbol":"SOX10","synonyms":["WS4","WS4C","DOM","WS2E","PCWH"],"name":"SRY (sex determining region Y)-box 10","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 activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":6663,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6663","proteins":[{"symbol":"SOX10_HUMAN","href":"/api/1.0/protein/SOX10_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"}]}