APH1B
aph-1B gamma-secretase subunit
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. [provided by RefSeq, Sep 2011]
Known Variants12 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2542272442 | 15:63,569,865 | G/C | — | uncertain significance |
| rs563968588 | 15:63,569,890 | T/G | — | uncertain significance |
| rs7162310 | 15:63,571,234 | C/T | intron variant | — |
| rs200321315 | 15:63,571,385 | C/G | — | uncertain significance |
| rs765681402 | 15:63,571,514 | T/C | — | uncertain significance |
| rs779603722 | 15:63,579,650 | G/A | — | uncertain significance |
| rs772109811 | 15:63,579,674 | C/T | — | uncertain significance |
| rs11071738 | 15:63,580,155 | T/C | intron variant | — |
| rs2068143 | 15:63,588,662 | G/A | intron variant | — |
| rs759112041 | 15:63,594,585 | G/A | — | uncertain significance |
| rs1047552 | 15:63,597,857 | T/G | missense variant | — |
| rs200252632 | 15:63,597,934 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.