The PEX12 gene homepage

General information
Gene symbol PEX12
Gene name peroxisomal biogenesis factor 12
Chromosome 17
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NG_008447.1
Transcript reference NM_000286.2
Associated with diseases PBD-3A, PDB-3B
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 1
Hidden variants 1
Date created November 30, -0001
Date last updated September 28, 2016
Version PEX12:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:8854
Entrez Gene 5193
PubMed articles PEX12
OMIM - Gene 601758
OMIM - Diseases PBD-3A (peroxisome biogenesis disorder, type 3A (PBD-3A))
PDB-3B (peroxisome biogenesis disorder, type 3B (PBD-3B, Refsum’s disease))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00030308 17 peroxisomal biogenesis factor 12 NM_000286.2 NP_000277.1 1