蛋白名称
Peroxisome biogenesis factor 2
免疫原
The antiserum was produced against synthesized peptide derived from human PXMP3. AA range:1-50
特异性
Peroxin 2 Monoclonal Antibody detects endogenous levels of Peroxin 2 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
PEX2; PAF1; PMP3; PMP35; PXMP3; RNF72; Peroxisome biogenesis factor 2; 35 kDa peroxisomal membrane protein; Peroxin-2; Peroxisomal membrane protein 3; Peroxisome assembly factor 1; PAF-1; RING finger protein 72
背景
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],
功能
disease:Defects in PXMP3 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.,disease:Defects in PXMP3 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.,disease:Defects in PXMP3 are the cause of p
