The theoretical molecular weight of VHL is 24 kDa.
However, different migrating species ranging from 21-30 kDa have been observed using antibodies to VHL, and may result from a variety of factors including alternatively spliced VHL mRNAs and protein degradation.
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.
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Protein Aliases: elongin binding protein; HRCA1; Protein G7; pVHL; RCA1; VHL1; von Hippel-Lindau disease tumor suppressor; von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
Gene Aliases: HRCA1; pVHL; RCA1; VHL; VHL1
UniProt ID: (Human) P40337
Entrez Gene ID: (Human) 7428
Molecular Function: ligase