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FLASH GENE
Symbol NDN contributors: mct/npt - updated : 19-12-2018
HGNC name necdin, MAGE family member
HGNC id 7675
ASSOCIATED DISORDERS
corresponding disease(s) PWS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional        
during development likely contributes to the hypogonadotrophic hypogonadal phenotype in individuals with PWS (Miller 2009)
constitutional   deletion    
disturbs the migration of serotonin (5-HT) neuronal precursors, leading to altered global serotonergic neuroarchitecture and increased spontaneous firing of 5-HT neurons
constitutional     --over  
during osteoblast differentiation
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target cancer therapeutic target (Chapman 2009)
ANIMAL & CELL MODELS
  • NDN knockout mouse model(Lee,05)with defects seen in PWS patients
  • Necdin-deficient mice display early post-natal lethality with variable penetrance
  • Necdin-deficient mouse is the only model that reproduces the respiratory phenotype of PWS (central apnea and blunted response to respiratory challenges)