P4HTM

Chr 3AR

prolyl 4-hydroxylase, transmembrane

Also known as: EGLN4, HIDEA, HIFPH4, P4H-TM, PH-4, PH4, PHD4

NCBI Gene: 54681 ENSG00000178467 UniProt: Q9NXG6 OMIM: 614584

The protein catalyzes 4-hydroxyproline formation in hypoxia-inducible factor (HIF) alpha proteins and functions as a cellular oxygen sensor that targets HIF for proteasomal degradation under normoxic conditions. Biallelic mutations cause an autosomal recessive multisystem disorder characterized by hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities. This gene is extremely intolerant to loss-of-function variants, indicating that normal protein function is critical for development and cellular homeostasis.

OMIM ResearchSummary from OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.001 OMIM phenotype

Clinical Summary— P4HTM

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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