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PEX12 belongs to the peroxin-12 family. Zusätzlich bieten wir Ihnen Peroxisomal Biogenesis Factor 12 Antikörper (42) und viele weitere Produktgruppen zu diesem Protein an.
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examination of role in PEX5 binding of PTS1
A single missense mutation was found in PEX12 in eight neonatal adrenoleukodystrophy, and infantile Refsum disease patients With Peroxisomal Mosaicism.
Highly probable candidate gene for direct sequencing in the context of a peroxisomal biogenesis disorder with a mild clinical phenotype, mosaicism and minimally abnormal peroxisomal parameters in fibroblasts.
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