Literature associating P4HTM and Gaucher's disease
P4HTM [ENSP00000341422]
Prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum); 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, Q9NXG6, V9GYK5 ...