Entrez gene ID | | 6663 |
Official gene symbol | | SOX10 |
Full name | | SRY (sex determining region Y)-box 10 |
Aliases | | ,DOM,MGC15649,PCWH,WS2E,WS4,WS4C, |
Gene 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] |
Location | | Chromosome: 22 Locus: 22q13.1 |
Gene position | | 38380539 - 38368319 Map Viewer |
Gene orientation | | minus |
Gene size | | 12221 bp |
Gene sequence |
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OMIM ID | | 602229 |