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PEX12 belongs to the peroxin-12 family. Additionally we are shipping Peroxisomal Biogenesis Factor 12 Antibodies (40) and Peroxisomal Biogenesis Factor 12 Proteins (6) and many more products for this protein.
examination of role in PEX5 (show PEX5 ELISA Kits) binding of PTS1
A single missense mutation was found in PEX12 in eight neonatal adrenoleukodystrophy, and infantile Refsum disease patients With Peroxisomal Mosaicism.
the relative fraction of disease-causing alleles that occur in the coding and splice junction sequences of PEX12 gene.
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).
peroxisome assembly protein 12
, peroxisomal biogenesis factor 12
, peroxin 12
, Peroxisome assembly protein 12
, peroxisome assembly protein 12-like
, peroxisome assembly factor 3