rs1047552
This is a protein-altering variant in the APH1B gene.
▶Research that mentions this SNP (1)
▶Correlation between HIV‐1 seropositivity and prevalence of a γ‐secretase polymorphism in two distinct ethnic populationsAssociationN=1,720Karen M.J. van Loo et al.(2009)· Journal of Medical Virology
A case-control study examining the association between the APH1B Phe217Leu polymorphism (rs1047552) and HIV-1 seropositivity in two ethnic populations. The variant showed a trend toward association in the Xhosa South African population (P=0.087, OR=2.33) and significant association in Dutch Caucasians (P=0.049, OR=1.67), suggesting the gamma-secretase pathway may influence susceptibility to HIV-1 infection.
About APH1B
This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]
View all APH1B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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