The PEX1 gene homepage

This database is one of the dbPEX gene variant databases.
General information
Gene symbol PEX1
Gene name peroxisomal biogenesis factor 1
Chromosome 7
Chromosomal band q21.2
Imprinted Unknown
Genomic reference NG_008341.2
Transcript reference NM_000466.2
Exon/intron information NM_000466.2 exon/intron table
Associated with diseases HMLR1, ID, PBD1A, PBD1B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Nancy Braverman and Steven Steinberg
Total number of public variants reported 609
Unique public DNA variants reported 227
Individuals with public variants 358
Hidden variants 25
Download all this gene's data Download all data
Notes This database is one of the dbPEX gene variant database.
Date created May 05, 2006
Date last updated September 15, 2020
Version PEX1:200915

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_000466.2.
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 dbPEX
HGNC 8850
Entrez Gene 5189
PubMed articles PEX1
OMIM - Gene 602136
OMIM - Diseases HMLR1 (Heimler syndrome, type 1 (HMLR1))
PBD1A (peroxisome biogenesis disorder, type 1A (PBD1A, Zellweger syndrome))
PBD1B (peroxisome biogenesis disorder, type 1B (PBD1B, (NALD/IRD)))
GeneCards PEX1
GeneTests PEX1

Active transcripts




NCBI ID     

NCBI Protein ID     

00015982 7 peroxisomal biogenesis factor 1 NM_000466.2 NP_000457.1 609

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 © 2006-2020. 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.