VHL - Gene Detail

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Gene Symbol VHL
Synonyms HRCA1 | pVHL | RCA1 | VHL1
Gene Description VHL, von Hippel-Lindau tumor suppressor, is part of an E3 ubiquitin protein ligase complex, which promotes degradation of HIF-alpha and other protein targets required for cellular growth and angiogenesis (PMID: 24583008, PMID: 30194449), and plays a role in genomic stability (PMID: 31747945). VHL contributes to von Hippel-Lindau disease (PMID: 30194449, PMID: 30006056) and sporadic tumors, including clear cell renal carcinoma (PMID: 24583008, PMID: 30149673).
ACMG Incidental List v3.0:
Yes, Von Hippel-Lindau syndrome (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
7428 3 3p25.3 NM_000551 Tumor suppressor (PMID: 30606230)

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