肉毒碱棕榈酰基转移酶2抗体
规格：1mg/1ml
英文名： CPT2
别名： Carnitine O palmitoyltransferase 2; Carnitine O palmitoyltransferase 2 mitochondrial; Carnitine O-palmitoyltransferase 2; Carnitine palmitoyltransferase II; CPT 1; CPT 2; CPT II; CPT1; CPT2; CPT2_HUMA
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：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human CPT2
交叉反应：Human, Mouse, Rat, Dog, Pig, Horse, Rabbit,
细胞定位：
肉毒碱棕榈酰基转移酶2抗体产品介绍：background: 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 *****s. 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肉毒碱棕榈酰基转移酶2抗体 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肉毒碱棕榈酰基转移酶2抗体 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. Database links: UniProtKB/Swiss-Prot: P23786.2 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
肉毒碱棕榈酰基转移酶2抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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：心血管 细胞生物 **学 信号转导 细胞类型标志物 脂蛋白 新陈代谢 线粒体
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid