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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 29/09/2005
Symbol BLS1C
Location 6p21.3
Name Bare lymphocyte syndrome type I
Corresponding gene TAPBP
Main clinical features
  • characterized by chronic bacterial colonization of the respiratory tract,developing in late childhood . associated with a reduction of HLA-I expression at the cell surface
  • Genetic determination multigenic
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name TAP binding protein (tapasin)