• 靶点：
• VHL

• 简介：
• >>HIF-1 signaling pathway;>>Ubiquitin mediated proteolysis;>>Pathways in cancer;>>Renal cell carcinoma

• 基因名称：
• VHL

• 蛋白名称：
• Von Hippel-Lindau disease tumor suppressor (Protein G7) (pVHL)

• Human Gene Id：
• 7428

• Human Swiss Prot No：
• P40337

• Mouse Gene Id：
• 22346

• Mouse Swiss Prot No：
• P40338

• 免疫原：
• The antiserum was produced against synthesized peptide derived from the N-terminal region of human VHL. AA range:1-50

• 特异性：
• The antibody detects endogenous VHL

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• IHC 1:50-200, ELISA 1:10000-20000. IF 1:50-200

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 其他名称：
• Von Hippel-Lindau disease tumor suppressor (Protein G7;pVHL)

• 实测条带：
• 19-24kD

• 背景：
• von Hippel-Lindau tumor suppressor(VHL) Homo sapiens 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],

• 功能：
• disease:Defects in VHL are a cause of pheochromocytoma [MIM:171300]. The pheochromocytomas are catecholamine-producing, chromaffin tumors that arise in the adrenal medulla in 90% of cases. In the remaining 10% of cases, they develop in extra-adrenal sympathetic ganglia and may be referred to as "paraganglioma." Pheochromocytoma usually presents with hypertension. Approximately 10% of pheochromocytoma is hereditary. The genetic basis for most cases of non-syndromic familial pheochromocytoma is unknown.,disease:Defects in VHL are a cause of renal cell carcinoma type 1 (RCC1) [MIM:144700]; also called hypernephroma or adenocarcinoma of kidney. Familial renal cell carcinoma syndromes form a group of diseases characterized by a predisposition to development of renal cell carcinomas (RCCs) with various histological subtypes.,disease:Defects in VHL are the cause of erythrocytosis familial type

• 细胞定位：
• [Isoform 1]: Cytoplasm. Membrane; Peripheral membrane protein. Nucleus. Found predominantly in the cytoplasm and with less amounts nuclear or membrane-associated. Colocalizes with ADRB2 at the cell membrane.; [Isoform 3]: Cytoplasm. Nucleus. Equally distributed between the nucleus and the cytoplasm but not membrane-associated.

• 组织表达：
• Expressed in the adult and fetal brain and kidney.

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