rs2068143
This is a intron variant variant in the APH1B gene.
▶Research that mentions this SNP (1)
▶Cerebrospinal fluid Aβ42 levels and APP processing pathway genes in Parkinson's diseaseAssociationN=246Lynn M. Bekris et al.(2015)· Movement Disorders
This case-control study examined genetic variation in APP processing pathway genes and their association with cerebrospinal fluid amyloid-beta 42 levels in Parkinson's disease patients (n=85) versus healthy controls (n=161). Two SNPs showed significant correlation with CSF Aβ42 in PD: APP rs466448 (lower levels, p=0.014) and APH1B rs2068143 (higher levels, p=0.002), while three SNPs correlated in controls: APP rs214484 and rs2040273, and PSEN1 rs362344 (all lower levels). Results suggest APP and APH1B genetic variants may modulate CSF Aβ42 levels in PD patients.
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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