SOX10 wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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.

**Synonyms:** - DOM - Dominant Megacolon, Mouse, Human Homolog of Gene - PCWH - RP5-1039K5.9 - SRY (Sex Determining Region Y)-Box 10 wt Allele - SRY-Related HMG-Box Gene 10 - WS2E - WS4 - WS4C