Health / Medical Topics

    SOX10 wt Allele

    Human SOX10 wild-type allele is located in the vicinity of 22q13.1 and is approximately 17 kb in length. This allele, which encodes transcription factor SOX-10 protein, plays a role in transcriptional activation. Mutation of the gene is associated with Waardenburg syndrome types 2E and 4C and with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. (NCI Thesaurus)




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