LOVD PEX1 homepage

General information
Gene name Peroxisome Biogenesis Factor 1
Gene symbol PEX1
Chromosome Location 7q21-7q22
Database location www.dbpex.org
Curator Nancy Braverman and Steven Steinberg
PubMed references View all (unique) PubMed references in the PEX1 database
Date of creation May 05, 2006
Last update November 23, 2011
Version PEX1 111123
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Reference sequence file coding DNA reference sequence for describing sequence variants
Total number of unique DNA variants reported 52
Total number of individuals with variant(s) 166
Total number of variants reported 276
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the PEX1 database, sorted by type of variant (with graphical displays and statistics)

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the PEX1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the PEX1 database
Variants with no known pathogenicity Listing of all PEX1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Entrez Gene 5189
OMIM - Gene 602136
OMIM - Disease #1 (ZELLWEGER SYNDROME)
OMIM - Disease #2 (REFSUM DISEASE INFANTILE FORM)
OMIM - Disease #3 (ADRENOLEUKODYSTROPHY AUTOSOMAL NEONATAL FORM)
HGMD PEX1
External link #1 http://www.ensembl.org/Homo_sapiens/transview?db=core&transcript=ENST00000248633