The PEX16 gene homepage

This database is one of the dbPEX gene variant databases.
General information
Gene symbol PEX16
Gene name peroxisomal biogenesis factor 16
Chromosome 11
Chromosomal band p
Imprinted Unknown
Genomic reference NG_008460.1
Transcript reference NM_004813.2, NM_057174.2
Exon/intron information NM_057174.2 exon/intron table
Associated with diseases PBD-8A, PBD-8B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Nancy Braverman and Steven Steinberg
Total number of public variants reported 39
Unique public DNA variants reported 30
Individuals with public variants 132
Hidden variants 3
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 September 15, 2020
Version PEX16:200915

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_057174.2.
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 https://www.LOVD.nl/PEX16
HGNC 8857
Entrez Gene 9409
PubMed articles PEX16
OMIM - Gene 603360
OMIM - Diseases PBD-8A (peroxisome biogenesis disorder, type 8A (PBD-8A))
PBD-8B (peroxisome biogenesis disorder, type 8B (PBD-8B))
HGMD PEX16
GeneCards PEX16
GeneTests PEX16


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015996 11 transcript variant 2 NM_057174.2 NP_476515.1 39
00025547 11 transcript variant 1 NM_004813.2 NP_004804.1 32


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.