Symbol
| HECW2
| contributors: mct - updated : 18-11-2021
|
HGNC name
| HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
|
HGNC id
| 29853
|
corresponding disease(s)
|
NDHSAL
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
in the aganglionic colon suggests that NEDL2 may play a role in the pathophysiology of Hirschsprung disease  | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| mice lacking NEDL2 exhibit decreased numbers of enteric neurons, progressive bowel dysmotility and intestinal hypoganglionosis  |