The PEX6 gene homepage

This database is one of the dbPEX gene variant databases.
General information
Gene symbol PEX6
Gene name peroxisomal biogenesis factor 6
Chromosome 6
Chromosomal band p22-p11
Imprinted Unknown
Genomic reference NG_008370.1
Transcript reference NM_000287.3
Exon/intron information NM_000287.3 exon/intron table
Associated with diseases HMLR2, PBD4A, PBD4B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Nancy Braverman
Total number of public variants reported 297
Unique public DNA variants reported 193
Individuals with public variants 339
Hidden variants 10
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 supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 05, 2006
Date last updated January 25, 2023
Version PEX6:230125

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_000287.3.
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
HGNC 8859
Entrez Gene 5190
PubMed articles PEX6
OMIM - Gene 601498
OMIM - Diseases HMLR2 (Heimler syndrome, type 2 (HMLR2))
PBD4A (peroxisome biogenesis disorder, type 4A (PBD4A, Zellweger))
PBD4B (peroxisome biogenesis disorder, type 4B (PBD-4B))
GeneCards PEX6
GeneTests PEX6
Orphanet PEX6

Active transcripts




NCBI ID     

NCBI Protein ID     

00015987 6 peroxisomal biogenesis factor 6 NM_000287.3 NP_000278.3 297

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 © 2006-2023. 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.

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