PEX2 recombinant protein

Recombinant Human PEX2 protein

Cat. Num. AAA1562036

• Gene Names: PEX2; PAF1; PMP3; ZWS3; PBD5A; PBD5B; PMP35; PXMP3; RNF72
• Purity: >90% as determined by SDS-PAGE
• Synonyms: PEX2; Recombinant Human PEX2 protein; Peroxisome biogenesis factor 2; 35kDa peroxisomal membrane protein; Peroxin-2; Peroxisomal membrane protein 3; Peroxisome assembly factor 1; PAF-1; RING finger protein 72; PEX2 recombinant protein

• Host: E Coli
• Purity/Purification: >90% as determined by SDS-PAGE
• Form/Format: Lyophilized. Lyophilized from PBS pH 7.4, 0.2% NLS, 5% Trehalose, 5% Mannose, 1mM EDTA.

• Species: Homo sapiens (Human)
• Protein Construction: A DNA sequence encoding the human PEX2 (Ala28-Glu118) was fused with His tag
• Reconstitution: Reconstitute in sterile water for a stock solution.
• Preparation and Storage: Store at 2 to 8 degree C for one week. Store at -20 to -80 degree C for twelve months from the date of receipt. Use a manual defrost freezer and avoid repeated freeze thaw cycles.; In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.

Related Product Information for PEX2 recombinant protein

Somewhat implicated in the biogenesis of peroxisomes.

Product Categories/Family for PEX2 recombinant protein

Protein

NCBI and Uniprot Product Information

• NCBI GI #: 4506343
• NCBI GeneID: 5828
• NCBI Accession #: NP_000309.1
• NCBI GenBank Nucleotide #: NM_000318.2
• UniProt Accession #: P28328; Q567S6; Q9BW41
• Molecular Weight: 34,843 Da
• NCBI Official Full Name: peroxisomal biogenesis factor 2
• NCBI Official Synonym Full Names: peroxisomal biogenesis factor 2
• NCBI Official Symbol: PEX2
• NCBI Official Synonym Symbols: PAF1; PMP3; ZWS3; PBD5A; PBD5B; PMP35; PXMP3; RNF72
• NCBI Protein Information: peroxisomal biogenesis factor 2; RING finger protein 72; peroxisome assembly factor 1; peroxisome assembly factor-1; peroxisome biogenesis factor 2; 35 kDa peroxisomal membrane protein; peroxisomal membrane protein 3, 35kDa
• UniProt Protein Name: Peroxisome biogenesis factor 2
• Protein Family: Peroxisome biogenesis factor
• UniProt Gene Name: PEX2
• UniProt Synonym Gene Names: PAF1; PMP3; PMP35; PXMP3; RNF72; PAF-1
• UniProt Entry Name: PEX2_HUMAN

NCBI Description

This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

Uniprot Description

PXMP3: Somewhat implicated in the biogenesis of peroxisomes. Defects in PEX2 are the cause of peroxisome biogenesis disorder complementation group 5 (PBD-CG5); 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). 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). 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 pex2/pex10/pex12 family.

Protein type: Membrane protein, integral; Cell development/differentiation; Ubiquitin conjugating system; Motility/polarity/chemotaxis; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 8q21.1

Cellular Component: peroxisomal membrane; integral to peroxisomal membrane; membrane

Molecular Function: protein binding; zinc ion binding

Biological Process: bile acid biosynthetic process; cholesterol homeostasis; fatty acid beta-oxidation; protein destabilization; very-long-chain fatty acid metabolic process; negative regulation of fibroblast proliferation; peroxisome organization and biogenesis; regulation of cholesterol biosynthetic process; neuron migration; protein import into peroxisome matrix; negative regulation of transcription from RNA polymerase II promoter; negative regulation of epithelial cell proliferation

Disease: Peroxisome Biogenesis Disorder 5a (zellweger); Peroxisome Biogenesis Disorder 5b