The PEX5 gene homepage

This database is one of the dbPEX gene variant databases.
General information
Gene symbol PEX5
Gene name peroxisomal biogenesis factor 5
Chromosome 12
Chromosomal band p
Imprinted Unknown
Genomic reference NG_008448.1
Transcript reference NM_000319.4
Exon/intron information NM_000319.4 exon/intron table
Associated with diseases ID, PBD2A, PBD2B, RCDP5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Nancy Braverman and Steven Steinberg
Total number of public variants reported 45
Unique public DNA variants reported 38
Individuals with public variants 177
Hidden variants 6
Download all this gene's data Download all data
Notes This database is one of the dbPEX gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created October 22, 2006
Date last updated February 08, 2021
Version PEX5:210208

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_000319.4.
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
HGNC 9719
Entrez Gene 5830
PubMed articles PEX5
OMIM - Gene 600414
OMIM - Diseases PBD2A (peroxisome biogenesis disorder, type 2A (PBD2A))
PBD2B (peroxisome biogenesis disorder, type 2B (PBD2B))
RCDP5 (chondrodysplasia punctata, rhizomelic, type 5 (RCDP5))
GeneCards PEX5
GeneTests PEX5
Orphanet PEX5

Active transcripts




NCBI ID     

NCBI Protein ID     

00015985 12 transcript variant 2 NM_000319.4 NP_000310.2 45

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2006-2021. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.