PEX12 Products

Description

The peroxisome biogenesis disorders (PBDs; MIM 601539) are a group of genetically heterogeneous diseases that are usually lethal in early infancy. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. This cellular phenotype is shared by yeast 'pex' mutants, and human orthologs of yeast PEX genes defective in some PBD complementation groups (CGs).[supplied by OMIM]

Bioinformatics

Entrez	5193 Human
Uniprot	AAH31085 Human
Product By Gene ID	5193
Alternate Names	PAF3 PAF-3 peroxin 12 peroxin-12 peroxisomal biogenesis factor 12 Peroxisome assembly factor 3 peroxisome assembly protein 12

Research Areas for PEX12

Find related products by research area and learn more about each of the different research areas below.

Signal Transduction