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FLASH GENE
Symbol ABCG1 contributors: mct/ - updated : 19-06-2015
HGNC name ATP-binding cassette, sub-family G (WHITE), member 1
HGNC id 73
ASSOCIATED DISORDERS
corresponding disease(s)
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
overexpressed in macrophages from patients with Tangier disease
tumoral     --over  
in squamous cell carcinoma of the head and neck
constitutional     --over  
transcriptional upregulation by oxysterols in macrophages and liver, two key tissues where ABCG1 expression may affect cholesterol balance and atherogenesis
constitutional   amplification    
altered cholesterol metabolism and APP trafficking mediated by ABCG1 may contribute to the accelerated onset of AD neuropathology in Down syndrome
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • deletion of the transmembrane transporter ABCG1 results in progressive pulmonary lipidosis in mouse
  • Abcg1(-/-) mice display IL17-mediated suppression of eosinophilia and enhancement of neutrophilia in the airway following allergen sensitization and challenge (