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SOX10

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]
Protein class

Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Group enriched (Oligodendrocyte precursor cells, Oligodendrocytes, Breast myoepithelial cells, Melanocytes, Breast glandular cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (SK-MEL-30, WM-115)

Interaction

Monomer. Interacts with ARMCX3 at the mitochondrial outer membrane surface. Interacts with PAX3 (PubMed:21965087).

Molecular function

Activator, DNA-binding

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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