Human peroxisomal biogenesis factor 5 ELISA Kit | PEX5 elisa kit

Human Peroxisomal targeting signal 1 receptor, PEX5 ELISA Kit

Cat. Num. AAA9335740

• Gene Names: PEX5; PXR1; PBD2A; PBD2B; PTS1R; PTS1-BP
• Reactivity: Human
• Synonyms: peroxisomal biogenesis factor 5; Human Peroxisomal targeting signal 1 receptor; PEX5 ELISA Kit; Human Peroxisomal targeting signal 1 receptor (PEX5) ELISA kit; FLJ50634; FLJ50721; FLJ51948; PTS1-BP; PTS1R; PXR1; peroxin-5; peroxisomal C-terminal targeting signal import receptor; peroxisomal targeting signal 1 (SKL type) receptor; peroxisomal targeting signal; PEX5 elisa kit

• Reactivity: Human

• Assay Type: Quantitative Sandwich
• Detection Range: 0.25ng/ml-8ng/ml
• Sensitivity: 0.1ng/ml
• Intra-assay Precision: Intra-assay CV (%) is less than 15%.
• Inter-assay Precision: Inter-assay CV (%) is less than 15%. [CV(%) = SD/mean ×100]. All CV% should be compared by concentration, not compared by OD values.
• Preparation and Storage: Store all reagents at 2-8 degree C

Related Product Information for PEX5 elisa kit

Background/Introduction: This Quantitative Sandwich ELISA kit is for lab reagent/research use only, not for drug, household, therapeutic or test applications! This kit is intended to be used for determine the level of PEX5 (hereafter termed "analyte") in undiluted original Human serum, plasma or tissue homogenates samples. For other sample types please contact tech support to determine compatibility with this assay. This kit is not suitable for assaying non-biological sources of substances.

NCBI and Uniprot Product Information

• NCBI GI #: 21361204
• NCBI GeneID: 5830
• NCBI Accession #: NP_000310.2
• NCBI GenBank Nucleotide #: NM_000319.4
• UniProt Accession #: P50542; Q15115; Q15266; Q96FN7; A8K891; B4DZ45; B7ZAD5; D3DUT8
• Molecular Weight: 70,865 Da
• NCBI Official Full Name: peroxisomal biogenesis factor 5 isoform b
• NCBI Official Synonym Full Names: peroxisomal biogenesis factor 5
• NCBI Official Symbol: PEX5
• NCBI Official Synonym Symbols: PXR1; PBD2A; PBD2B; PTS1R; PTS1-BP
• NCBI Protein Information: peroxisomal biogenesis factor 5; peroxin-5; PTS1 receptor; peroxisome receptor 1; peroxisomal targeting signal 1 receptor; peroxisomal targeting signal receptor 1; peroxisomal targeting signal import receptor; peroxisomal targeting signal 1 (SKL type) receptor; peroxisomal C-terminal targeting signal import receptor
• UniProt Protein Name: Peroxisomal targeting signal 1 receptor
• Protein Family: Peroxisome biogenesis protein
• UniProt Gene Name: PEX5
• UniProt Synonym Gene Names: PXR1; PTS1 receptor; PTS1R
• UniProt Entry Name: PEX5_HUMAN

NCBI Description

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Uniprot Description

PEX5: Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Defects in PEX5 are a cause of adrenoleukodystrophy neonatal (NALD). NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long- chain fatty acids, adrenal insufficiency and mental retardation. Inheritance is autosomal recessive. Defects in PEX5 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. Defects in PEX5 may be a cause of infantile Refsum disease (IRD). 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. Belongs to the peroxisomal targeting signal receptor family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Receptor, protein translocating

Chromosomal Location of Human Ortholog: 12p13.31

Cellular Component: peroxisomal membrane; Golgi apparatus; peroxisomal matrix; protein complex; membrane; cytoplasm; peroxisome; intracellular; cytosol

Molecular Function: small GTPase binding; protein C-terminus binding; protein binding; enzyme binding; peroxisome targeting sequence binding; peroxisome matrix targeting signal-1 binding; protein N-terminus binding

Biological Process: protein targeting to peroxisome; protein import into peroxisome matrix; protein import into peroxisome matrix, docking; protein import into peroxisome membrane; protein import into peroxisome matrix, translocation; protein tetramerization

Disease: Peroxisome Biogenesis Disorder 2a (zellweger); Peroxisome Biogenesis Disorder 2b