Gene: APH1B

Alternate names for this Gene: APH-1B|PRO1328|PSFL|TAAV688

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q22.2

Description of this Gene: aph-1 homolog B, gamma-secretase subunit

Type of Gene: protein-coding

rs117618017 in APH1B gene and Alzheimer's Disease PMID 30617256 2019 Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.

rs76539602 in APH1B gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11071738 in APH1B gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs7162310 in APH1B gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.