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.

Aliases:    DOM; WS4; PCWH; WS2E; WS4C    

Entrez GeneID:    6663    

Swissprot:    P56693    

WB Predicted band size:    49.9kDa    

Host/Isotype:    Mouse IgG1    

Species Reactivity:    Human    

Immunogen:    Purified recombinant fragment of human SOX10 (AA: 147-252) expressed in E. Coli.    

ELISA    1/10000