HIF Prolyl Hydroxylases Recombinant Rabbit Monoclonal Antibody [JE63-25] (HA722468)

UNIPROT #

Q9NXG6

PROTEIN NAME

HIF Prolyl Hydroxylases

SYNONYMS

EGLN4 antibody;FLJ20262 antibody;HIF prolyl hydroxylase PH4 antibody;HIF-PH4 antibody;HIF-prolyl hydroxylase 4 antibody;HIFPH4 antibody;HPH-4 antibody;Hypoxia inducible factor prolyl 4 hydroxylase antibody;Hypoxia inducible factor prolyl hydroxylase antibody;Hypoxia-inducible factor prolyl hydroxylase 4 antibody;P4H TM antibody;P4H with transmembrane domain antibody;P4H-TM antibody;P4htm antibody;P4HTM_HUMAN antibody;PH 4 antibody;PH4 antibody;PHD4 antibody;Proline 4 hydroxylase antibody;Prolyl 4 hydroxylase transmembrane (endoplasmic reticulum) antibody;Prolyl hydroxlase domain containing 4 antibody;Transmembrane prolyl 4-hydroxylase antibody

SUBCELLULAR LOCATION

Endoplasmic reticulum membrane.

FUNCTION

The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. 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. 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.