Symbol
| NCAM1
| contributors: mct - updated : 26-11-2014
|
HGNC name
| neural cell adhesion molecule 1
|
HGNC id
| 7656
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
|  
|  
| --low
|  
|
is one of the factors associated with or possibly responsible for disease progression in multiple sclerosis | constitutional
|  
|  
|  
| gain of function
|
plays a pivotal role in the pathogenesis of ischemic cardiomyopathy (ICM) and may be a target for future immunotherapeutic strategies in the treatment of this common and often fatal disease | constitutional
|  
|  
| --over
|  
|
of CHRNG, CHRND, NCAM1, RUNX1 associated with neuromuscular junction denervation in ageing | tumoral
|  
|  
| --over
|  
|
in follicular adenoma (FA), and nonneoplastic thyroid lesions | |
Susceptibility
|
to neural tube defects to alcohol dependence to left ventricular wall thickness and relative wall thickness in hypertensive families |
Variant & Polymorphism
SNP
, other
| SNP associated to neural tube defects |
|
variant of exon12/intron 13 increasing risk of alcohol dependence |
|
variant in NCAM1 associated with left ventricular wall thickness and relative wall thickness in hypertensive families |
|
|
|
|
Candidate gene
Marker
| expression of NCAM1 is an unfavorable prognostic marker for acute promyelocytic leukemia with higher initial white blood cell counts | Therapy target
|
System | Type | Disorder | Pubmed |
miscelleaneous | urinary | chronic kidney disease | |
ability to influence an endogenous regenerative response via NCAM1 targeting may lead to novel therapeutics for renal diseases |
| | |
| bone marrow-derived MSCs from Ncam deficient mice exhibit defective migratory ability and significantly impaired adipogenic and osteogenic differentiation potential |