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FLASH GENE
Symbol ADD1 contributors: mct - updated : 10-03-2016
HGNC name adducin 1 (alpha)
HGNC id 243
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional        
induced disruption of the actin cytoskeleton, reduced intercellular adhesion of human keratinocytes, and decreased the levels of the desmosomal adhesion molecule DSG3 by reducing its membrane incorporation
Susceptibility
  • salt sensitivity
  • susceptibility to peripheral arterial disease (PAD) and coronary heart disease (CHD)
  • susceptibility to hypertension predisposing to the development of end-stage renal disease
  • to essential hypertension
  • Variant & Polymorphism SNP
  • G460W allele was significantly associated with PAD and CHD
  • polymorphisms increasing the risk of hypertension predisposing to the development of end-stage renal disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Add1 null mice show abnormal inward curvature of the cervicothoracic spine with complete penetrance and develop severe megaesophagus