The PEX7 gene homepage

This database is one of the dbPEX 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
Exon/intron information NM_000288.3 exon/intron table
Associated with diseases ID, PBD9B, RCDP1, Refsum
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Nancy Braverman
Total number of public variants reported 290
Unique public DNA variants reported 94
Individuals with public variants 172
Hidden variants 6
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 May 05, 2006
Date last updated February 26, 2024
Version PEX7:240226

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_000288.3.
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 https://www.LOVD.nl/PEX7
HGNC 8860
Entrez Gene 5191
PubMed articles PEX7
OMIM - Gene 601757
OMIM - Diseases PBD9B (peroxisome biogenesis disorder, type 9B (PBD9B))
RCDP1 (chondrodysplasia punctata, rhizomelic, type 1 (RCDP-1))
Refsum (Refsum disease (deficiency, phytanic acid oxidase))
HGMD PEX7
GeneCards PEX7
GeneTests PEX7
Orphanet PEX7


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00015988 6 peroxisomal biogenesis factor 7 NM_000288.3 NP_000279.1 290


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