VHL wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - HRCA1 - RCA1 - VHL1 - Von Hippel Lindau Tumor Supressor Gene - Von Hippel-Lindau Syndrome Gene - Von Hippel-Lindau Tumor Suppressor, E3 Ubiquitin Protein Ligase Gene - Von Hippel-Lindau Tumor Supressor wt Allele - pVHL