LEPRE1/P3H1

Basement membrane-associated chondroitin sulfate proteoglycan (CSPG). Has prolyl 3-hydroxylase activity catalyzing the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens, especially types IV and V. May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts.

Osteogenesis imperfecta 8

OI8

A form of osteogenesis imperfecta, a disorder of bone formation 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, shortening of the long bones, white sclerae, a round face and a short barrel-shaped chest.

None

The disease is caused by variants affecting the gene represented in this entry. A splice site mutation leading to the absence of isoform 1 has been reported in 2 OI8 patients. Isoform 1 is the only form predicted to be located in the endoplasmic reticulum, which the appropriate location for the catalysis of collagen hydroxylation. These patients show indeed severely reduced COL1A1 hydroxylation (PubMed:19088120).

O-glycosylated; chondroitin sulfate.

Belongs to the leprecan family.

• Isoform 1
• Endoplasmic reticulum
• Secreted
• Extracellular space
• Extracellular matrix
• Secreted into the extracellular matrix as a chondroitin sulfate proteoglycan (CSPG).

GROS1, LEPRE1, PSEC0109, P3H1, Prolyl 3-hydroxylase 1, Growth suppressor 1, Leucine- and proline-enriched proteoglycan 1, Leprecan-1

• entrezGene:64175
• omim:610339
• swissprot:Q32P28

Proteins

Immuno-oncology

83394Da