P3H1 gene

From NCBI Gene:

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]

From UniProt:

Covered on Genetics Home Reference:

• Osteogenesis imperfecta

From NCBI Gene:

• Osteogenesis imperfecta type 8

From UniProt:

Osteogenesis imperfecta 8 (OI8): A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI8 is characterized by disproportionate short stature, severe osteoporosis, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest. [MIM:610915]

Cytogenetic Location: 1p34.2, which is the short (p) arm of chromosome 1 at position 34.2

Molecular Location: base pairs 42,746,374 to 42,767,028 on chromosome 1 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

• GROS1
• LEPRE1
• OI8