BD-PN1038

PEX6 Rabbit Polyclonal Antibody

常规抗体

PEX6 PXAAA1

Peroxisome assembly factor 2 (PAF-2) (Peroxin-6) (Peroxisomal biogenesis factor 6) (Peroxisomal-type ATPase 1)

WB

Human,Rat,Mouse

1 mg/ml

Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.

5190

Q13608

https://www.uniprot.org/uniprotkb/Q13608/entry

Q99LC9

http://www.uniprot.org/uniprot/Q99LC9

P54777

http://www.uniprot.org/uniprot/O54941P54777

Synthesized peptide derived from human protein . at AA range: 480-560

PEX6 Polyclonal Antibody detects endogenous levels of protein.

WB 1:500-2000 ELISA 1:5000-20000

107kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

Expressed in the retina, at higher levels in the photoreceptor layer at the joint between the outer and inner segments.

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). .

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 continuum of overlapping phenotypes known as the Zellweger spectrum. The PBD group is genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies.,function:Involved in peroxisome biosynthesis. Required for stability of the PTS1 receptor. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.,similarity:Belongs to the AAA ATPase family.,subcellular location:Associated with peroxisomal membranes.,subunit:Interacts directly with PEX26 and PEX1. Mediates the indirect interaction between PEX1 and PEX26.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.