Disease-gene associations mined from literature

Literature associating VHL and familial erythrocytosis 4

VHL [ENSP00000256474]

Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase; Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia- inducible factor (HIF) under normoxic conditions. Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases. Ubiquitinates, in an oxygen-responsive manner, ADRB2; Belongs to the VHL family.

Synonyms:  A0A024R2F2,  A0PJF6,  J9Z661,  P40337,  A0PJF6p ...

Linkouts:  STRING  Pharos  UniProt  OMIM