Overview

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Species

      Human
    • Sequence

      KAKLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYF CAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL
    • Amino acids

      217 to 305
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab159292 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.

    Protein previously labeled as PEX2.

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names

    • 35 kDa peroxisomal membrane protein
    • PAF-1
    • PAF1
    • Peroxin-2
    • peroxisomal biogenesis factor 2
    • Peroxisomal membrane protein 3
    • peroxisomal membrane protein 3, 35kDa
    • Peroxisome assembly factor 1
    • Peroxisome biogenesis factor 2
    • PEX2
    • PEX2_HUMAN
    • PMP3
    • PMP35
    • PXMP3
    • RING finger protein 72
    • RNF72
    • ZWS3
    see all
  • Function

    Somewhat implicated in the biogenesis of peroxisomes.
  • Involvement in disease

    Defects in PEX2 are the cause of peroxisome biogenesis disorder complementation group 5 (PBD-CG5) [MIM:170993]; also known as PBD-CGF. 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 PEX2 are a cause of Zellweger syndrome (ZWS) [MIM:214100]. 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 PEX2 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.
  • Sequence similarities

    Belongs to the pex2/pex10/pex12 family.
    Contains 1 RING-type zinc finger.
  • Cellular localization

    Peroxisome membrane.
  • Information by UniProt

Images

  • ab159292 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab159292 has not yet been referenced specifically in any publications.

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