PEX12 blocking peptide

PEX12 Immunizing Peptide

Cat. Num. AAA427302

• Gene Names: PEX12; PAF-3; PBD3A
• Reactivity: Human, Mouse, Rat, Dog, Cow
• Synonyms: PEX12; PEX12 Immunizing Peptide; peroxisomal biogenesis factor 12; PAF-3; peroxin 12; peroxisome assembly factor 3; peroxisome assembly protein 12; PEX12 blocking peptide

• Reactivity: Human, Mouse, Rat, Dog, Cow
• Form/Format: 100ug of dried peptide
• Sequence: RSHQACPITGYP
• Sequence Length: 359

• Preparation and Storage: Shipped at ambient temperature, store at -20 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 4505721
• NCBI GeneID: 5193
• NCBI Accession #: NP_000277.1
• NCBI GenBank Nucleotide #: NM_000286.2
• Molecular Weight: 40,797 Da
• NCBI Official Full Name: peroxisome assembly protein 12
• NCBI Official Synonym Full Names: peroxisomal biogenesis factor 12
• NCBI Official Symbol: PEX12
• NCBI Official Synonym Symbols: PAF-3; PBD3A
• NCBI Protein Information: peroxisome assembly protein 12
• UniProt Protein Name: Peroxisome assembly protein 12
• Protein Family: Peroxisome assembly protein
• UniProt Gene Name: PEX12
• UniProt Synonym Gene Names: PAF3; PAF-3
• UniProt Entry Name: PEX12_HUMAN

NCBI Description

This gene belongs to the peroxin-12 family. 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 of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

Uniprot Description

PEX12: Required for protein import into peroxisomes. Defects in PEX12 are the cause of peroxisome biogenesis disorder complementation group 3 (PBD-CG3). 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 PEX12 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 pex2/pex10/pex12 family.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Ubiquitin conjugating system

Chromosomal Location of Human Ortholog: 17q12

Cellular Component: integral to peroxisomal membrane; peroxisomal membrane; peroxisome

Molecular Function: protein binding; protein C-terminus binding; ubiquitin-protein ligase activity; zinc ion binding

Biological Process: peroxisome organization and biogenesis; protein import into peroxisome matrix; protein monoubiquitination; protein targeting to peroxisome

Disease: Peroxisome Biogenesis Disorder 3a (zellweger); Peroxisome Biogenesis Disorder 3b