过氧化物酶体生物合成因子5抗体
规格：1尘驳/1尘濒
英文名： PEX5
别名： FLJ50634; FLJ50721; FLJ51948; Peroxin 5; Peroxin-5; Peroxisomal biogenesis factor 5; Peroxisomal C terminal targeting signal import receptor; Peroxisomal C-terminal targeting signal import receptor; P
分子量： 71kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human PEX5
交叉反应：Human, Mouse, Rat, Chicken, Rabbit,
细胞定位：细胞浆
过氧化物酶体生物合成因子5抗体产物介绍：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过氧化物酶体生物合成因子5抗体RefSeq, Oct 2008] Function: Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Subcellular Location: Cytoplasm. Peroxisome membrane. Its distribution appears to be dynamic. It is probably a cycling receptor found mainly in the cytoplasm and as well associated to the peroxisomal membrane through a docking factor. Tissue Specificity: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. DISEASE: Defects in PEX5 are a cause of adrenoleukodystrophy neonatal (NALD) [MIM:202370]. NALD is a peroxisome biogenesis disorder (PBD) characterized by the accumulation of very long-chain fatty acids, adrenal insufficiency and mental retardation. Inheritance is autosomal recessive. Defects in PEX5 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 过氧化物酶体生物合成因子5抗体cysts, hearing impairment, profound psychomotor retardation, severe hypotonia and neonatal seizures. Death occurs within the first year of life. Defects in PEX5 may be 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. Similarity: Belongs to the peroxisomal targeting signal receptor family. Contains 7 TPR repeats. Database links: Entrez Gene: 418299 Chicken Entrez Gene: 514832 Cow Entrez Gene: 486710 Dog Entrez Gene: 100135597 Guinea pig Entrez Gene: 5830 Human Entrez Gene: 19305 Mouse Entrez Gene: 312703 Rat Omim: 600414 Human SwissProt: Q5ZMQ9 Chicken SwissProt: Q1RMV0 Cow SwissProt: O70525 Guinea pig SwissProt: P50542 Human SwissProt: O09012 Mouse SwissProt: Q2M2R8 Rat Unigene: 19020 Chicken Unigene: 10901 Cow Unigene: 567327 Human Unigene: 22418 Mouse Unigene: 14316 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
过氧化物酶体生物合成因子5抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 神经生物学 信号转导 转录调节因子
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid