Molecular weight (DA)
36kD
Immunogen
Synthesized peptide derived from human protein . at AA range: 100-180
Specificity
PEX16 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
peroxisomal biogenesis factor 16(PEX16) Homo sapiens The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008],
Function
disease:Defects in PEX16 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 PEX16 are the cause of peroxisome biogenesis disorder complementation group 9 (PBD-CG9) [MIM:603360]; also known as PBD-CGD. 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 co
Protein name
Peroxisomal membrane protein PEX16 (Peroxin-16) (Peroxisomal biogenesis factor 16)
Human protein sequence Database
Q9Y5Y5
Mouse protein sequence database
Q91XC9
Rat protein sequence database
Cellular localization
Peroxisome membrane ; Multi-pass membrane protein .
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