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PEX12 belongs to the peroxin-12 family. Additionally we are shipping Peroxisomal Biogenesis Factor 12 Proteins (6) and many more products for this protein.
Showing 10 out of 39 products:
Human Polyclonal PEX12 Primary Antibody for EIA, WB - ABIN954095
Zeharia, Ebberink, Wanders, Waterham, Gutman, Nissenkorn, Korman: A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. in Journal of human genetics 2007
Show all 3 references for ABIN954095
Cow (Bovine) Polyclonal PEX12 Primary Antibody for ELISA - ABIN4238012
Yik, Steinberg, Moser, Moser, Hacia: Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. in Human mutation 2009
examination of role in PEX5 (show PEX5 Antibodies) 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