Molecular weight (DA)
107kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 480-560
Specificity
PEX6 Polyclonal Antibody detects endogenous levels of protein.
Formulation
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Dilution rate
WB 1:500-2000 ELISA 1:5000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015],
Function
disease:Defects in PEX6 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. ZWS is a fatal peroxisome biogenesis disorder characterized by dysmorphic facial features, hepatomegaly, ocular abnormalities, renal cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life.,disease:Defects in PEX6 are the cause of peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:601498]; also known as PBD-CGC. PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical cont
Protein name
Peroxisome assembly factor 2 (PAF-2) (Peroxin-6) (Peroxisomal biogenesis factor 6) (Peroxisomal-type ATPase 1)
Human protein sequence Database
Q13608
Mouse protein sequence database
Q99LC9
Rat protein sequence database
P54777
Cellular localization
Cytoplasm. Peroxisome membrane . Cell projection, cilium, photoreceptor outer segment . Associated with peroxisomal membranes. Localized at the base of the outer segment of photoreceptor cells (PubMed:26593283). .
Tissue expression
Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments.
Contract Us
Follow Us
Location： 
Specification
成功添加到购物车