Functions

 transcription factor (SOXs)
 human connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10 (#11734543#)

Pathology:

 germline mutations of SOX10 in Waardenburg-Shah type 4 disease (WS4) associating bilateral profound hearing loss, short segment Hirschsprung disease, and pigmentary abnormalities (white hair, blue irides with gray speckles, depigmented skin patches) (MIM.277580)

 Mutations in a developmental neural crest syndrome associating peripheral demyelinating neuropathy, central leukodystrophy, Waardenburg-Shah syndrome and chronic intestinal pseudo-obstruction and deafness (#11026454#)

 germline mutations in yemenite deaf-blind hypopigmentation syndrome (MIM.601706)