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- accession：NM_016022
- 基因别名：APH1A
- 基因描述：Homo sapiens APH1A gamma secretase subunit (APH1A), transcript variant 2, mRNA.
- 载体： 现货载体
- CDS区长度：744
- 翻译后氨基酸长度：247
- TranscriptVariant：This variant (2) contains an alternate segement in the 3' terminus that results in a frameshift and premature stop codon, compared to variant 1, and encodes an isoform (2; also known as isoform S) with a shorter and distinct C-terminus, compared to isoform 1.
- 基因简介：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]
- 载体信息：自有图片地址
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
