P3H1

Chr 1AR

prolyl 3-hydroxylase 1

Also known as: GROS1, LEPRE1, OI8

NCBI Gene: 64175 ENSG00000117385 UniProt: Q32P28 OMIM: 610339

This gene encodes a prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline in collagen types IV and V, which is essential for proper collagen synthesis and assembly in the endoplasmic reticulum. Mutations cause osteogenesis imperfecta type VIII, a severe bone fragility disorder with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (LOEUF 1.226), suggesting that complete loss of function may be required for disease manifestation.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 1.231 OMIM phenotype

Clinical Summary— P3H1

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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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