SOX10

Adult-onset

SRY-box transcription factor 10

22q13.1VariableAutosomal RecessiveAutosomal DominantDigenicMitochondrialDe NovoX-LinkedOMIM 142623

Also known as: DOM, PCWH, SOX-10, WS2E, WS4, WS4C

Gene Summary

RefSeq / NCBI

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]

Associated Conditions

Hirschsprung

VariableAutosomal RecessiveAutosomal DominantGeneral

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

ClinGen

Clinical Genome Resource

G2P

Gene-to-Phenotype (EBI)

GeneReviews

NCBI Expert-Authored Reviews

NCBI Gene

National Center for Biotechnology Information

PubMed

Biomedical Literature

UniProt

Universal Protein Resource

DECIPHER

DatabasE of genomiC varIation and Phenotype in Humans

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.