| Symbol
| NEDD4L
| contributors: mct/npt/pgu - updated : 08-12-2017
|
| HGNC name
| neural precursor cell expressed, developmentally down-regulated 4-like
|
| HGNC id
| 7728
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --over
|
| |
with NDFIP1 proteins are up-regulated in stressed neurons during brain injury | | constitutional
|
|
|
| loss of function
|
in lung epithelia causes a CF-like disease, suggesting that normally this E3 ligase provides a protective function against the development of cystic fibrosis symptoms  | | constitutional
|
|
|
| loss of function
| |
in adult renal tubules causes a new form of mild, salt-sensitive hypertension without hyperkalemia that is characterized by upregulation of Na+Cl- cotransporter, elevation of SCNN1B/SCNN1G, but not SCNN1A | | tumoral
|
|
| --over
|
| |
negative NEDD4L expression is strongly related to the invasion and metastasis of gastric cancer | |
| Susceptibility
|
to essential hypertension to beta-blocker or diuretic-induced blood pressure reduction and prevention of cardiovascular disease |
| Variant & Polymorphism
SNP
| association between several SNPs and hypertension |
|
functional NEDD4L rs4149601 polymorphism influences the efficacy of beta-blocker and/or diuretic-based antihypertensive treatment both in terms of blood pressure reduction and cardiovascular disease protection |
| 
|
Candidate gene
| Marker
| NEDD4L expression can be used as an independent prognostic marker of gastric cancer | Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| miscelleaneous | hypertension | | |
| implications of SCNN1A/NEDD4L systems might reach fruition in the discovery of molecular targets that could serve as therapeutic point of actions for the pharmaceutical management of essential hypertension in the future | | respiratory | CF (mucoviscidosis) | | |
| search for compounds that enhance NEDD4L activity could provide a useful approach to develop unique treatments for cystic fibrosis | | neurology | neurodegenerative | alzheimer | |
| drugs which inhibit the interaction between SLC5A7 and NEDD4L might be useful for diseases involving decrease in acetylcholine level such as Alzheimer disease |
| | |
|
| specific ablation of Nedd4L in lung epithelia in mice leads to the development of cystic fibrosis-like symptoms, most likely caused by increased SCNN1A function |