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FLASH GENE
Symbol AP1S3 contributors: mct - updated : 12-05-2014
HGNC name adaptor-related protein complex 1, sigma 3 subunit
HGNC id 18971
ASSOCIATED DISORDERS
corresponding disease(s) PUPSO
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
disrupted the endosomal translocation of the innate pattern-recognition receptor TLR3 and resulted in a marked inhibition of downstream signaling
Susceptibility to osteoporosis
Variant & Polymorphism SNP
  • rs6436440 and rs2291296, were located in the genes AP1S3, associated with variation of bone mineral density and osteoporosis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS