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GENATLAS PHENOTYPE

last update : 3/07/2006

Symbol	BLS1B
Location	6p21.3
Name	bare lymphocyte syndrome type IB
Corresponding gene	TAP1
Main clinical features	characterized by chronic bacterial colonization of the respiratory tract and skin lesions . associated with a defect of MHC1 expression at the cell surface and a secundary defect of ABCB3 (TAP2)
Genetic determination	multigenic
Function/system disorder	defense and immunity
Type	susceptibility factor

Gene product

Name	MHC-linked transporter protein 1