Is VHL a tumor suppressor gene?
The VHL protein likely plays a role in other cellular functions, including the regulation of other genes and control of cell division. Based on this function, the VHL protein is classified as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.
What is the von Hippel-Lindau gene?
Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein.
Is pVHL a tumor suppressor?
Genotype-phenotype correlations In vivo, pVHL acts as a tumor suppressor by binding to a hypoxia-inducible factor (HIF). HIF regulates gene expression by oxygen. Loss of pVHL results in high HIF levels and subsequent overproduction of VEGF, PDGF, and TGF- α.
Where is the VHL gene located?
Von Hippel–Lindau tumor suppressor
|Aliases||VHL, HRCA1, RCA1, VHL1, pvon Hippel-Lindau tumor suppressor|
|External IDs||OMIM: 608537 MGI: 103223 HomoloGene: 465 GeneCards: VHL|
|Gene location (Human) Chr. Chromosome 3 (human) Band 3p25.3 Start 10,141,778 bp End 10,153,667 bp|
What causes VHL syndrome?
What causes Von Hippel-Lindau disease? Von Hippel-Lindau disease is an inherited condition. You get it through mutations (changes) in the VHL gene you inherit from your parents. In about 1 in 5 cases, the person diagnosed with VHL is the first in the family to have the disease.
Who discovered VHL gene?
These efforts ultimately allowed the identification of the VHL gene in a seminal article in 1993 by Latif et al. The gene itself is small, 854 nucleotides in 3 exons encoding 284 amino acids.
What chromosome is APC on?
Familial adenomatous polyposis coli is an autosomal dominant hereditary form of colorectal cancer associated with mutations in the adenomatous polyposis coli (APC) gene on chromosome 5.
What is RET mutation?
Mutations in the RET gene are the most common genetic cause of Hirschsprung disease, a disorder that causes severe constipation or blockage of the intestine. More than 200 RET gene mutations are known to cause this condition.
Who discovered Von Hippel-Lindau?
Arvid Lindau and discovery of von Hippel-Lindau disease. J Neurosurg. 2015 Oct;123(4):1093-7.