Human peroxisomal biogenesis factor 16 ELISA Kit | PEX16 elisa kit
Human Peroxisomal membrane protein PEX16, PEX16 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
PEX16: Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3. Defects in PEX16 are the cause of peroxisome biogenesis disorder complementation group 9 (PBD-CG9); 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 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. Defects in PEX16 are a cause of Zellweger syndrome (ZWS). 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. Belongs to the peroxin-16 family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 11p11.2
Cellular Component: peroxisomal membrane; endoplasmic reticulum membrane; integral to peroxisomal membrane; membrane; endoplasmic reticulum; peroxisome
Molecular Function: protein C-terminus binding; protein binding
Biological Process: ER-dependent peroxisome biogenesis; peroxisome organization and biogenesis; protein targeting to peroxisome; protein import into peroxisome matrix; protein to membrane docking; protein import into peroxisome membrane; peroxisome membrane biogenesis
Disease: Peroxisome Biogenesis Disorder 8b; Peroxisome Biogenesis Disorder 8a (zellweger)
Research Articles on PEX16
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Product Notes
The Human PEX16 pex16 (Catalog #AAA9326040) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9326040 ELISA Kit recognizes Human PEX16. It is sometimes possible for the material contained within the vial of "peroxisomal biogenesis factor 16, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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