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FLASH GENE
Symbol HECW2 contributors: mct - updated : 18-11-2021
HGNC name HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
HGNC id 29853
ASSOCIATED DISORDERS
corresponding disease(s) NDHSAL
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in the aganglionic colon suggests that NEDL2 may play a role in the pathophysiology of Hirschsprung disease
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • mice lacking NEDL2 exhibit decreased numbers of enteric neurons, progressive bowel dysmotility and intestinal hypoganglionosis