Gene Symbol | SOX10 |
Entrez Gene ID | 6663 |
Full Name | SRY-box 10 |
Synonyms | DOM,PCWH,WS2E,WS4,WS4C |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Waardenburg syndrome, type 4C, 613266 (3); Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3); PCWH syndrome, 609136 (3) |