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 (1) Nancy Braverman
Total number of public variants reported 628
Unique public DNA variants reported 237
Individuals with public variants 366
Hidden variants 28
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 November 04, 2021
Version PEX1:211104

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 https://www.LOVD.nl/PEX1
External URL dbPEX
HGNC 8850
Entrez Gene 5189
PubMed articles PEX1
OMIM - Gene 602136
OMIM - Diseases HMLR1 (syndrome, Heimler, type 1 (HMLR1))
PBD1A (peroxisome biogenesis disorder, type 1A (PBD1A, Zellweger syndrome))
PBD1B (peroxisome biogenesis disorder, type 1B (PBD1B, (NALD/IRD)))
HGMD PEX1
GeneCards PEX1
GeneTests PEX1
Orphanet PEX1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015982 7 peroxisomal biogenesis factor 1 NM_000466.2 NP_000457.1 628


Copyright & disclaimer
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