Aliases for SOX10 Gene
External Ids for SOX10 Gene
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]
GeneCards Summary for SOX10 Gene
SOX10 (SRY (Sex Determining Region Y)-Box 10) is a Protein Coding gene. Diseases associated with SOX10 include waardenburg syndrome, type 4c and waardenburg syndrome, type 2e, with or without neurologic involvement. Among its related pathways are ERK Signaling and Neural Crest Differentiation. GO annotations related to this gene include identical protein binding and transcription factor binding. An important paralog of this gene is SOX3.
UniProtKB/Swiss-Prot for SOX10 Gene
Transcription factor that seems to function synergistically with the POU domain protein TST-1/OCT6/SCIP. Could confer cell specificity to the function of other transcription factors in developing and mature glia (By similarity).