|
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. |
| References |
|---|
|
1. J Am Acad Dermatol. 2012 Oct;67(4):717-26. 2. J Neurooncol. 2006 Jan;76(2):115-27. |
| Specification | |
|---|---|
| Aliases | DOM; WS4; PCWH; WS2E; WS4C |
| Entrez GeneID | 6663 |
| Swissprot | P56693 |
| clone | 2E7E8 |
| WB Predicted band size | 49.9kDa |
| Host/Isotype | Mouse IgG1 |
| Storage | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| Species Reactivity | Human |
| Immunogen | Purified recombinant fragment of human SOX10 (AA: 147-252) expressed in E. Coli. |
| Formulation | Purified antibody in PBS with 0.05% sodium azide |