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SOX10 SRY-box 10

Also known as: DOM; WS4; PCWH; WS2E; WS4C

Summary

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]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-07-18)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2013-07-18)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
22q13.1
Sequence:
Chromosome: 22; NC_000022.11 (37972312..37984532, complement)
Total number of exons:
4

Links

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