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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.
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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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