Anti-PEX2 Antibody (CAB15308)
- SKU:
- CAB15308
- Product type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Metabolism
Description
抗体名: | Anti-PEX2 Antibody |
抗体コード: | CAB15308 |
抗体サイズ: | 20uL, 50uL, 100uL |
申し込み: | WB IHC |
反応性: | Human, Mouse, Rat |
宿主種: | Rabbit |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-130 of human PEX2 (NP_001165558.1). |
申し込み: | WB IHC |
推奨希釈: | WB 1:200 - 1:2000 IHC 1:50 - 1:200 |
反応性: | Human, Mouse, Rat |
ポジティブサンプル: | LO2, 293T, HeLa, U-251MG, NIH/3T3, Mouse liver, Mouse brain, Rat liver, Rat brain |
免疫原: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-130 of human PEX2 (NP_001165558.1). |
精製方法: | Affinity purification |
ストレージバッファ: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
アイソタイプ: | IgG |
順序: | MASR KENA KSAN RVLR ISQL DALE LNKA LEQL VWSQ FTQC FHGF KPGL LARF EPEV KACL WVFL WRFT IYSK NATV GQSV LNIK YKND FSPN LRYQ PPSK NQKI WYAV CTIG GRWL EERC YDLF RNHH LA |
遺伝子ID: | 5828 |
Uniprot: | P28328 |
セルラーロケーション: | Multi-pass membrane protein, Peroxisome membrane |
計算された分子量: | 34kDa |
観察された分子量: | 35kDa |
同義語: | PEX2, PAF1, PBD5A, PBD5B, PMP3, PMP35, PXMP3, RNF72, ZWS3 |
バックグラウンド: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Cell development/differentiation; Membrane protein, integral; Motility/polarity/chemotaxis; Membrane protein, multi-pass; Ubiquitin conjugating system Chromosomal Location of Human Ortholog: 8q21.1 Cellular Component: integral to peroxisomal membrane; membrane; peroxisomal membrane Molecular Function:protein binding; zinc ion binding Biological Process: bile acid biosynthetic process; cholesterol homeostasis; fatty acid beta-oxidation; negative regulation of epithelial cell proliferation; negative regulation of fibroblast proliferation; negative regulation of transcription from RNA polymerase II promoter; neuron migration; peroxisome organization and biogenesis; protein destabilization; protein import into peroxisome matrix; regulation of cholesterol biosynthetic process; very-long-chain fatty acid metabolic process Disease: Peroxisome Biogenesis Disorder 5a (zellweger); Peroxisome Biogenesis Disorder 5b |
NCBI Summary: | 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 Code: | P28328 |
NCBI GenInfo Identifier: | 281185478 |
NCBI Gene ID: | 5828 |
NCBI Accession: | P28328.2 |
UniProt Secondary Accession: | P28328,Q567S6, Q9BW41, |
UniProt Related Accession: | P28328 |
Molecular Weight: | 34,843 Da |
NCBI Full Name: | Peroxisome biogenesis factor 2 |
NCBI 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: | peroxisome biogenesis factor 2 |
UniProt Protein Name: | Peroxisome biogenesis factor 2 |
UniProt Synonym Protein Names: | 35 kDa peroxisomal membrane protein; Peroxin-2; Peroxisomal membrane protein 3; Peroxisome assembly factor 1; PAF-1; RING finger protein 72 |
Protein Family: | Peroxisome biogenesis factor |
UniProt Gene Name: | PEX2 |
UniProt Entry Name: | PEX2_HUMAN |