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Antibody detects endogenous levels of total PEX12.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: PAF-3; peroxin 12; Peroxin-12; Peroxisome assembly factor 3; Peroxisome assembly protein 12
Gene Aliases: AI451906; PAF-3; PAF3; PBD3A; PEX12
UniProt ID: (Human) O00623, (Rat) O88177, (Mouse) Q8VC48
Entrez Gene ID: (Human) 5193, (Rat) 116718, (Mouse) 103737
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