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- accession：NM_000551
- 基因别名：VHL
- 基因描述：Homo sapiens von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL), transcript variant 1, mRNA.
- 载体：现货载体
- CDS区长度：642
- 翻译后氨基酸长度：213
- TranscriptVariant：This variant (1) represents the longer transcript and encodes the longer isoform (1).
- 基因简介：Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
- 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
