ITT3669
ITT3669
- Catalog: ITT3669
- Gene/Protein: PEX1
- Product Description: Immunotag™ Peroxin 1 Polyclonal Antibody
385.0000
Price in reward points: 385
| Antibody Specification | |
| Datasheet | 
|
| Target Protein | Peroxin 1 |
| Clonality | Polyclonal |
| Storage/Stability | -20°C/1 year |
| Application | IHC-p,ELISA |
| Recommended Dilution | Immunohistochemistry: 1/100 - 1/300. ELISA: 1/10000. Not yet tested in other applications. |
| Concentration | 1 mg/ml |
| Reactive Species | Human,Mouse |
| Host Species | Rabbit |
| Immunogen | The antiserum was produced against synthesized peptide derived from human PEX1. AA range:1234-1283 |
| Specificity | Peroxin 1 Polyclonal Antibody detects endogenous levels of Peroxin 1 protein. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
| Form | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Gene Name | PEX1 |
| Accession No. | O43933 Q5BL07 |
| Alternate Names | PEX1; Peroxisome biogenesis factor 1; Peroxin-1; Peroxisome biogenesis disorder protein 1 |
| Description | peroxisomal biogenesis factor 1(PEX1) Homo sapiens This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013], |
| Protein Expression | Brain,Lymph,Trachea, |
| Subcellular Localization | cytoplasm,peroxisome,peroxisomal membrane,cytosol,intracellular membrane-bounded organelle,extracellular exosome, |
| Protein Function | disease:Defects in PEX1 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long-chain fatty acids, adrenal insufficiency and mental retardation.,disease:Defects in PEX1 are a cause of infantile Refsum disease (IRD) [MIM:266510]. IRD is a mild peroxisome biogenesis disorder (PBD). Clinical features include early onset, mental retardation, minor facial dysmorphism, retinopathy, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.,disease:Defects in PEX1 are the cause of peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]; also known as PBD-CGE. 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:Required for stability of PEX5 and protein import into the peroxisome matrix. Anchored by PEX26 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the AAA ATPase family.,subcellular location:Associated with peroxisomal membranes.,subunit:Interacts directly with PEX6. Interacts indirectly with PEX26, via its interaction with PEX6., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |
| Material Safety Data Sheet | |
| English_US |
|
| Danish |
|
| Dutch |
|
| English_UK |
|
| French |
|
| German |
|
| Spanish |
|
| Norwegian |
|
| Portuguese |
|
| Finnish |
|
| Swedish |
|
| Polish |
|