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.

Transmembrane prolyl 4-hydroxylase
P4H-TM
Hypoxia-inducible factor prolyl hydroxylase 4 (HIF-PH4; HIF-prolyl hydroxylase 4; HPH-4)
P4HTM
PH4

q9nxg6

WB,IHC,IF,ICC,IP,FC

WB 1:1000
IHC 1:200
IF 1:100-1:400
ICC 1:100
IP 1-2μg/sample
FC 1:1000

Human

Predicted size: 47 kDa

Rabbit

Endoplasmic reticulum membrane.

Protein A affinity purified.

Recombinant Rabbit monoclonal

IgG

Liquid

1*TBS (pH7.4), 0.05% BSA, 40% Glycerol. Preservative: 0.05% Sodium Azide.

Store at +4°C short term. Store at -20°C long term. Avoid freeze / thaw cycle.