PEX7 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol PEX7
Gene name peroxisomal biogenesis factor 7
Chromosome 6
Chromosomal band q21-q22.2
Imprinted Unknown
Genomic reference NG_008462.1
Transcript reference NM_000288.3
Associated with diseases ID, PBD-9B, RCDP-1, Refsum
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 47
Unique public DNA variants reported 36
Individuals with public variants 2
Hidden variants 2
Notes This database is one of the "Eye disease" gene variant databases.
Date created February 11, 2013
Date last updated June 24, 2020
Version PEX7:200624

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 8860
Entrez Gene 5191
PubMed articles PEX7
OMIM - Gene 601757
OMIM - Diseases PBD-9B (peroxisome biogenesis disorder, type 9B (PBD-9B))
RCDP-1 (chondrodysplasia punctata, rhizomelic, type 1 (RCDP-1))
Refsum (Refsum disease (deficiency, phytanic acid oxidase))

Active transcripts




NCBI ID     

NCBI Protein ID     

00015988 6 peroxisomal biogenesis factor 7 NM_000288.3 NP_000279.1 47

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 © 2013-2020. 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.