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- accession：NM_001167934
- 基因别名：CCM2
- 基因描述：Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 3, mRNA.
- 载体：现货载体
- CDS区长度：1161
- 翻译后氨基酸长度：386
- TranscriptVariant：This variant (3) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus, compared to isoform 1.
- 基因简介：This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2009]
- 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
