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 PBD8A, PBD8B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Nancy Braverman
Total number of public variants reported 45
Unique public DNA variants reported 35
Individuals with public variants 134
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 November 27, 2023
Version PEX16:231127

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
HGNC 8857
Entrez Gene 9409
PubMed articles PEX16
OMIM - Gene 603360
OMIM - Diseases PBD8A (peroxisome biogenesis disorder, type 8A (PBD-8A))
PBD8B (peroxisome biogenesis disorder, type 8B (PBD-8B))
GeneCards PEX16
GeneTests PEX16
Orphanet PEX16

Active transcripts




NCBI ID     

NCBI Protein ID     

00015996 11 transcript variant 2 NM_057174.2 NP_476515.1 44
00025547 11 transcript variant 1 NM_004813.2 NP_004804.1 37

Copyright & disclaimer
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