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Article

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

PloS one - 1 Jan 2012

Takagi Masaki, Ishii Tomohiro, Barnes Aileen M, Weis Maryann, Amano Naoko, Tanaka Mamoru, Fukuzawa Ryuji, Nishimura Gen, Eyre David R, Marini Joan C, Hasegawa Tomonobu

Abstract excerpt

Prolyl 3-hydroxylase 1 (P3H1), encoded by the LEPRE1 gene, forms a molecular complex with cartilage-associated protein (CRTAP) and cyclophilin B (encoded by PPIB) in the endoplasmic reticulum (ER). This complex is responsible for one step in collagen post-translational modification, the prolyl 3-hydroxylation of specific proline residues, specifically α1(I) Pro986. P3H1 provides the enzymatic activity of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22615817
DOI: 10.1371/journal.pone.0036809
PMCID: PMC3352923

Genes

CRTAP
PPIB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.PMID 22615817Read ↗

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