Products

Western Blot (Transfected lysate)

Immunofluorescence (Transfected cell)

Flow Cytometry (Transfected cell)

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

PEX12

Gene Alias

PAF-3

Gene Description

peroxisomal biogenesis factor 12

Omim ID

Gene Ontology

Gene Summary

This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. 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. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq

Other Designations

peroxin 12|peroxisome assembly factor 3|peroxisome assembly protein 12