DISEASES

Disease-gene associations mined from literature

Literature on P4HTM

P4HTM [ENSP00000341422]

Transmembrane prolyl 4-hydroxylase; Catalyzes the post-translational formation of 4- hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex.

Synonyms:  P4HTM,  P4HTMp,  hP4HTM,  A0A0C4DGS7,  H7C153 ...

Linkouts:  STRING  Pharos  UniProt  OMIM