SOX10, Official Symbol SOX10provided by HGNC Official Full Name SRY-box transcription factor 10provided by HGNC Primary source HGNC:HGNC:11190 See related Ensembl:ENSG00000100146 MIM:602229; AllianceGenome:HGNC:11190 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DOM; WS4; PCWH; WS2E; WS4C; SOX-10 Summary 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] Expression Biased expression in salivary gland (RPKM 23.7), brain (RPKM 19.6) and 7 other tissues See more Orthologs mouse all