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FLASH GENE
Symbol APBB1 contributors: mct/npt/pgu - updated : 28-02-2014
HGNC name amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)
HGNC id 581
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
deletion of two members of the FE65 family of adaptor proteins, APBB1, APBB2, results in cerebral cortical dysplasia
Susceptibility Alzheimer disease (very late onset dementia of allelic type)
Variant & Polymorphism SNP , other polymorphism of the intron 13 protecting against Alzhheimer disease
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS