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FLASH GENE
Symbol SOX10 contributors: mct/npt/pgu - updated : 15-01-2016
HGNC name SRY (sex determining region Y)-box 10
HGNC id 11190
ASSOCIATED DISORDERS
corresponding disease(s) WS4C , YDBH , PCWH , WS2E , DUP22Q13 , KALHL
related resource Mutation Database of Inherited Peripheral Neuropathies
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in a ganglionic bowel of Hirschsprung disease (ws4c)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • transgenic expression of Sox10, a close relative of Sox9, in gonads of XX mice resulted in development of testes and male physiology
  • SOX10-null mutant mice showed an almost complete absence of the cells along the olfactory nerve pathway, as well as defasciculation and misrouting of the nerve fibers, impaired migration of GnRH cells, and disorganization of the olfactory nerve layer of the olfactory bulbs (