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FLASH GENE
Symbol NCAM1 contributors: mct - updated : 26-11-2014
HGNC name neural cell adhesion molecule 1
HGNC id 7656
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
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
    SystemTypeDisorderPubmed
    miscelleaneousurinarychronic kidney disease
    ability to influence an endogenous regenerative response via NCAM1 targeting may lead to novel therapeutics for renal diseases
    ANIMAL & CELL MODELS
  • bone marrow-derived MSCs from Ncam deficient mice exhibit defective migratory ability and significantly impaired adipogenic and osteogenic differentiation potential