The P3H1 gene homepage

Osteogenesis Imperfecta Variant Database
General information
Gene symbol P3H1
Gene name prolyl 3-hydroxylase 1
Chromosome 1
Chromosomal band p34.2
Imprinted Unknown
Genomic reference NG_008123.1
Transcript reference NM_022356.3
Exon/intron information NM_022356.3 exon/intron table
Associated with diseases OI, OI8
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (4) Gerard Pals, Sonna Stolk, Raymond Dalgleish, and Dimitra Micha
Total number of public variants reported 219
Unique public DNA variants reported 120
Individuals with public variants 404
Hidden variants 8
Download all this gene's data Download all data

The symbol and name for this gene were previously LEPRE1 and leucine proline-enriched proteoglycan (leprecan) 1; the changes to the gene symbol and name were made in December 2014.

Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
This database is supported by Osteogenesis Imperfecta Federation Europe (OIFE)
Date created June 25, 2008
Date last updated July 07, 2023
Version P3H1:230707

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_022356.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 19316
Entrez Gene 64175
PubMed articles P3H1
OMIM - Gene 610339
OMIM - Diseases OI8 (osteogenesis imperfecta type VIII (OI8))
GeneCards P3H1
GeneTests P3H1
Orphanet P3H1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000180 1 transcript variant 1 NM_022356.3 NP_001139761.1 219

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2008-2023. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.