🧬 基因注释：APH1A
官方名称：aph-1A gamma-secretase subunit
功能摘要：This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011].
- HNRNPC 综合评分: 0.586 · 证据 2 条
- FUS 综合评分: 0.496 · 证据 1 条
- RBFOX2 综合评分: 0.496 · 证据 2 条
- fus 综合评分: 0.496 · 证据 1 条
- HNRNPK 综合评分: 0.444 · 证据 2 条
- PTBP1 综合评分: 0.424 · 证据 2 条
- HNRNPA2B1 综合评分: 0.412 · 证据 2 条
- TIA1 综合评分: 0.374 · 证据 1 条
- Tardbp 综合评分: 0.372 · 证据 1 条
- HNRNPH1 综合评分: 0.350 · 证据 2 条
- MBNL1 综合评分: 0.350 · 证据 2 条
- PCBP2 综合评分: 0.324 · 证据 1 条
- UPF1 综合评分: 0.314 · 证据 1 条
- KHSRP 综合评分: 0.300 · 证据 2 条
- GRSF1 综合评分: 0.274 · 证据 2 条
- EWSR1 综合评分: 0.250 · 证据 2 条
- RBM10 综合评分: 0.250 · 证据 2 条
- RBM15 综合评分: 0.250 · 证据 2 条
- CPSF7 综合评分: 0.212 · 证据 2 条
- PRPF4 综合评分: 0.212 · 证据 1 条
该基因暂无关联疾病记录