NCIt synonyms : HRCA1; VHL1; pVHL; Von Hippel Lindau Tumor Supressor Gene; RCA1; Von Hippel-Lindau Syndrome Gene; Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase Gene; Von Hippel-Lindau Tumor Supressor wt Allele;
NCIt definition : Human VHL wild-type allele is located within 3p26-p25 and is approximately 10 kb in
length. This allele, which encodes von Hippel-Lindau disease tumor suppressor protein,
is involved in the regulation of protein ubiquitination and proteasomal targeting.
Mutations in the gene are associated with von Hippel-Lindau syndrome.;