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- Table of Contents
Facts about von Hippel-Lindau disease tumor suppressor.
Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive Fashion, ADRB2.
Human | |
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Gene Name: | VHL |
Uniprot: | P40337 |
Entrez: | 7428 |
Belongs to: |
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VHL family |
elongin binding protein; HRCA1; Protein G7; pVHL; RCA1; VHL; VHL1; von Hippel-Lindau disease tumor suppressor; von Hippel-Lindau syndrome; von Hippel-Lindau tumor suppressor
Mass (kDA):
24.153 kDA
Human | |
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Location: | 3p25.3 |
Sequence: | 3; NC_000003.12 (10141778..10153667) |
Expressed in the adult and fetal brain and kidney.
[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.
You are searching for the best VHL marker to use in immunohistochemistry applications? Read on. This article will review clinical applications, referral criteria, and Immunohistochemistry. It will also cover the latest developments in this rapidly evolving technology. After reading the article, you will be better equipped to make a decision about the best VHL marker for immunohistochemistry. For sharing your results on Boster’s website and social media, you will receive product credits.
The referral criteria for the VHL marker are intended to identify individuals who are likely to be affected by this disease. These criteria aren't a rule of diagnosis for VHL. These criteria do not exclude any other pancreatic or serous tumors. These criteria can help in diagnosing a patient. It is important to keep in mind that VHL screening eligibility depends on the patient's age and past.
One in every 200 000 people is affected by VHL, a rare hereditary form of cancer. VHL is a mutation in the gene responsible to making a particular gene protein. This gene exists in two copies in every cell. If one copy is altered, the normal copy will likely remain unchanged. This increases the chance of developing cancer.
Patients with this mutation often display a typical phenotype of a closed, fluid-filled sac. Other cysts are uncommon, but common in mosaic-NF1 patients. These tumors can include kidney and pancreatic cysts. Other types include broad ligament cystadenomas. These tumors are found near the testicles (in men) and the fallopian tube (in women). These tumors can be diagnosed using molecular diagnostics using the VHL marker.
Other tumor suppressors and a tumor suppressor gene (TCEB1) have been identified to be involved in ccRCC. These genes include PBRM1 and BAP1. These mutations are not mutually exclusive, but they are associated higher disease grades. Large-scale genomic analysis identified a group gene families that were frequently mutated around VHL.
Molecular diagnostics with VHL markers are becoming more common for Von Hippel Lindau syndrome. This is a hereditary condition that causes tumors in multiple body organs. The most common VHL tumor is the pancreatic cancer. VHL has been identified in 95 to 100 percent of peripheral blood DNA. It has also been found in four other tumor tissues. One case saw tumors that mutated at 6% among alleles.
The VHL gene encodes a protein which acts as a tumor suppressor. VHL regulates cell division and other genes. It is also classified as a tumor suppressor, which prevents uncontrolled cell growth. It also helps to form the extracellular matrix, which is a structure that supports tissues and forms a lattice within cells. Although the VHL gene is unknown in its exact role, it is a promising tool in the fight against tumors.
The gene is autosomal dominant. This means that every cell can have two copies. If one copy of the gene is altered, the person is likely to inherit the normal gene and develop cancer. A person can still develop cancer if they have only one copy or less of the affected gene. VHL gene mutations can happen in any cell. VHL testing is crucial for identifying those at high risk.
It is important that the exact size of the cancer and its stage are known. However, a better understanding of the kinetics of the disease could help doctors choose the most appropriate treatment. VHL patients need targeted treatment. This should be done as soon as the largest tumor reaches three or four cms. This type of surgery is called a nephron-sparing surgery. It involves removing tumors while preserving normal kidney function.
The VHL marker is a part of the Tumor suppressor Complex (VCB–CUL2). This protein works to target damaged proteins and remove them, thereby maintaining normal cell functions. The VHL genes are located on chromosome3p25. It is also known to be the von Hippel Lindau (VHL), tumor suppression gene. Many suppliers offer antibodies targeting the VHL genetic.
The VHL marker is immunoreactive against many renal markers. This is important for excluding metastatic RC. The development of the inner ear is affected by the VHL gene. The VHL marker has been previously identified in RCC as a tumor suppressor. The ELST has lost 3p in addition its immunoreactivity. This includes VHL locus. The 3p loss suggests that the VHL marker is similar to ccRCC.
When a parent carries the VHL gene mutation, a child or sibling will have a 50% chance of inheriting the gene with mutation. If there is no family history, the child will likely inherit this gene with mutation. VHL sufferers are also susceptible to de novo mutations. This type of mutation is known as hereditary, but a parent can pass along one or both genes.
Antibodies may be used for diagnostic purposes in many ways. Many of them are derived from altered or modified antibody. The label can be radioactive or radioopaque. VHL markers are useful in immunoprecipitation, especially for diagnostic use. It can be used in immunoprecipitation. However, the antibody is also useful for diagnostic and research purposes. It may be the best choice if you are planning to use VHL markers in your research.
A monoclonal antibody detecting human VHL physically interacts with Kruppel-like factor 4 (KLF4), a tumor suppressor that plays a crucial role in tumor development. Human KLF4 inhibits WNT signaling, promotes PAX-8 and PAX-2 mRNA expression. This antibody has been proven to be potent in anti-tumor activity.
Antibodies can be made from either whole or partial antibody to specific antigens. Dabs are shorthand for fragments of protein that represent antigens. This antibody-based molecular is especially useful for diagnostic purposes. It can be an intact antibody, or a modified version containing an effector protein and a label. In the latter case, radioactive labels are preferred over nonradioactive ones.
PMID: 8493574 by Latif F., et al. Identification of the von Hippel-Lindau disease tumor suppressor gene.
PMID: 8733131 by Richards F.M., et al. Expression of the von Hippel-Lindau disease tumour suppressor gene during human embryogenesis.