P4HTM
Function
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.
Involvement in disease
Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HIDEA
An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylated.
Tissue Specificity
Widely expressed with highest levels in adult pancreas, heart, skeletal muscle, brain, placenta, kidney and adrenal gland. Expressed at lower levels in epiphyseal cartilage and in fibroblasts.
Cellular localization
- Endoplasmic reticulum membrane
- Single-pass type II membrane protein
Alternative names
PH4, P4HTM, Transmembrane prolyl 4-hydroxylase, P4H-TM, Hypoxia-inducible factor prolyl hydroxylase 4, HIF-PH4, HIF-prolyl hydroxylase 4, HPH-4