蛋白名称
Von Hippel-Lindau disease tumor suppressor (Protein G7) (pVHL)
免疫原
Synthesized peptide derived from human pVHL
特异性
This antibody detects endogenous levels of human pVHL. Heat-induced epitope retrieval (HIER) TRIS-EDTA of pH8.0 was highly recommended as antigen repair method in paraffin section
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
来源
Mouse, Monoclonal/IgG3, Kappa
稀释比例
IHC-p 1:100-500. IF 1:50-200
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
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
