| 產(chǎn)品編號 | bs-5047R |
| 英文名稱 | CPT2 Rabbit pAb |
| 中文名稱 | 肉毒堿棕櫚酰基轉(zhuǎn)移酶2抗體 |
| 別 名 | CPT2/CPT1; Carnitine O palmitoyltransferase 2; Carnitine O palmitoyltransferase 2 mitochondrial; Carnitine O-palmitoyltransferase 2; Carnitine palmitoyltransferase II; CPT 1; CPT 2; CPT II; CPT1; CPT2_HUMAN; CPTASE; CPTII; mitochondrial. |
| 研究領(lǐng)域 | 心血管 細胞生物 免疫學(xué) 信號轉(zhuǎn)導(dǎo) 細胞類型標(biāo)志物 脂蛋白 新陳代謝 線粒體 |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 克 隆 號 | |
| 交叉反應(yīng) | (predicted: Human,Mouse,Rat,Rabbit,Pig,Dog,Horse) |
| 產(chǎn)品應(yīng)用 | WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理論分子量 | 71 kDa |
| 檢測分子量 | |
| 細胞定位 | 細胞漿 線粒體 |
| 性 狀 | Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human CPT2: 401-500/658 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 緩 沖 液 | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| 保存條件 | Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事項 | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| PubMed | PubMed |
| 產(chǎn)品介紹 |
The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]. Subcellular Location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. DISEASE: Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]: Autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death. Note=The disease is caused by mutations affecting the gene represented in this entry. Carnitine palmitoyltransferase 2 deficiency infantile (CPT2DI) [MIM:600649]: A disorder of mitochondrial long-chain fatty acid oxidation characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy. Note=The disease is caused by mutations affecting the gene represented in this entry. Carnitine palmitoyltransferase 2 deficiency lethal neonatal (CPT2D-LN) [MIM:608836]: Lethal neonatal form of CPT2D. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity. Note=The disease is caused by mutations affecting the gene represented in this entry. Encephalopathy, acute, infection-induced, 4 (IIAE4) [MIM:614212]: A severe neurologic complication of an infection. It manifests within days in otherwise healthy children after common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. In affected children, high-grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. CPT2 polymorphic variants do not cause classical carnitine palmitoyltransferase 2 deficiency, and patients harboring any of them are asymptomatic most of the time. However, they are prone to viral infection (high fever)-related encephalopathy (PubMed:21697855). Similarity: Belongs to the carnitine/choline acetyltransferase family. SWISS: P23786 Gene ID: 1376 Database links: Entrez Gene: 1376 Human Entrez Gene: 12896 Mouse Omim: 600650 Human SwissProt: P23786 Human SwissProt: P52825 Mouse Unigene: 713535 Human Unigene: 307620 Mouse Unigene: 11389 Rat |
