PEX5 (NM_000319) Human Recombinant Protein

• Background:

  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]

• Synonyms:

  PBD2A; PBD2B; PTS1-BP; PTS1R; PXR1; RCDP5

• Gene ID:

  5830

• UniProt:

  P50542, A0A0S2Z480

• Accession Number mRNA:

  NM_000319

• Chromosomal Location:

  12p13.31

• Expression System:

  HEK293T

• Tag:

  C-Myc/DDK

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol

• Function:

  Druggable Genome

• Molecular Weight:

  69.7 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  PEX5

• Species:

  Human

• Protein ID:

  NP_000310

• Overview:

  Recombinant protein of human peroxisomal biogenesis factor 5 (PEX5), transcript variant 2

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/5830

• Uniprot URL:

  https://www.uniprot.org/uniprot/P50542

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_000319

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_000310