Specifications
Immunogen
Synthesized peptide derived from an internal region of human PEX3.
Applications
Application Notes
WB: 1:500-1:1000
ELISA: 1:10000
Target
Alternative Names
PEX3; peroxisomal biogenesis factor 3; Peroxisomal assembly protein PEX3; Peroxisomal biogenesis factor 3; TRG18; peroxin-3; peroxisomal assembly protein PEX3; transformation-related protein 18; TRG18;
Product Background
Antigen Description
The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. 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 Zellweger syndrome (ZWS).
Pathway
ABC-family proteins mediated transport, organism-specific biosystem; ABCA transporters in lipid homeostasis, organism-specific biosystem; Peroxisome, organism-specific biosystem; Peroxisome, conserved biosystem; Transmembrane transport of small molecules, organism-specific biosystem;
Citations
Publication ()
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