- accession:NM_000021
- 基因别名:PSEN1
- 基因描述:Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.
- 载体: 现货载体
- CDS区长度:1404
- 翻译后氨基酸长度:467
- TranscriptVariant:This variant (1) encodes the longer isoform (I-467).
- 基因简介:Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
- 载体信息:自有图片地址
- 规格:10ul 质粒
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