Mouse Anti-PEX12 Recombinant Antibody (2G6) (CBMAB-P1471-YC)

Mouse

Human

2G6

IgG2a, κ

ELISA

PEX12 (AAH31085, AA 1-359 full length recombinant protein with GST tag.

Human

IgG2a, κ

Monoclonal

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Store at 4°C short term (1-2 weeks). Aliquot and store at-20°C long term. Avoid repeated freeze/thaw cycles.

peroxisomal biogenesis factor 12

PEX12 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).

Peroxisomal Biogenesis Factor 12; Peroxisome Assembly Factor 3; PAF-3; Peroxisome Assembly Protein 12; Peroxin 12; Peroxin-12; PBD3A; PAF3;

Required for protein import into peroxisomes.

Peroxisome organizationManual Assertion Based On ExperimentIMP:UniProtKB
Protein import into peroxisome matrixManual Assertion Based On ExperimentIMP:UniProtKB
Protein monoubiquitinationManual Assertion Based On ExperimentIBA:GO_Central
Protein targeting to peroxisome1 PublicationNAS:UniProtKB

Peroxisome membrane

Peroxisome biogenesis disorder complementation group 3 (PBD-CG3):
A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: 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 (PBD-ZSS).
Peroxisome biogenesis disorder 3A (PBD3A):
A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
Peroxisome biogenesis disorder 3B (PBD3B):
A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.

Cytoplasmic: 1-158
Helical: 159-179
Peroxisomal matrix: 180-239
Helical: 240-260
Cytoplasmic: 261-359