antibody

Goat anti-CPT2 (aa406-418) Antibody

MBS422236

0.1 mg

300 USD

polyclonal

goat

nonconjugated

western blot, enzyme immunoassay

Antibody

Goat anti-CPT2 (aa406-418) Antibody

CPT2

Goat Anti-CPT2 (aa141-154) Antibody; CPT2; carnitine palmitoyltransferase II; CPT1; CPTASE; OTTHUMP00000010493; carnitine O-palmitoyltransferase; CPT2 antibody; carnitine palmitoyltransferase II antibody; CPT1 antibody; CPTASE antibody; OTTHUMP00000010493 antibody; carnitine O-palmitoyltransferase antibody; CPT2 (aa406-418)

carnitine O-palmitoyltransferase 2, mitochondrial; Carnitine O-palmitoyltransferase 2, mitochondrial; carnitine O-palmitoyltransferase 2, mitochondrial; carnitine palmitoyltransferase 2; Carnitine palmitoyltransferase II; CPT II

CPT2

CPT2; CPT2; CPT1; IIAE4; CPTASE; CPT1; CPT II

CPT2_HUMAN

Polyclonal

Goat

Tested: Human; Expected from sequence similarity: Human

658

TDSTVTVQKLNFE

Purified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide

Supplied at 0.5 mg/ml in Tris saline, 0. 02% sodium azide, pH7.3 with 0.5% bovine serum albumin.

100ug specific antibody in 200ul

Aliquot and store at -20 degree C. Minimize freezing and thawing.

Peptide ELISA (EIA), Western Blot (WB)

Peptide ELISA: Antibody detection limit dilution 1: 4000. Western Blot: Experiments gave bands at approx 70kDa and 37kDa in Human Liver lysates. These bands correspond to earlier findings with different antibodies from other commercial sources. This protein has a calculated MW of 73.8kDa according to NP_000089.1. Recommended concentration: 1-3ug/ml.

Immunogen: Peptide with sequence C-TDSTVTVQKLNFE, from the internal region of the protein sequence according to NP_000089.1. Epitope: Internal region

4503023

NP_000089.1

NM_000098.2

73,777 Da

Fatty Acid Beta Oxidation Pathway (198865); Fatty Acid Degradation Pathway (82935); Fatty Acid Degradation Pathway (296); Fatty Acid Metabolism Pathway (868084); Fatty Acid Metabolism Pathway (878045); Fatty Acid, Triacylglycerol, And Ketone Body Metabolism Pathway (1270010); Import Of Palmitoyl-CoA Into The Mitochondrial Matrix Pathway (1270014); Metabolism Pathway (1269956); Metabolism Of Lipids And Lipoproteins Pathway (1270001); Mitochondrial LC-Fatty Acid Beta-Oxidation Pathway (198817)

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]

CPT2: Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D); also known as CPT-II deficiency or CPT2 deficiency. CPT2D is an 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. Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency infantile (CPT2DI). 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. Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency lethal neonatal (CPT2D-LN); also known as lethal neonatal CPT-II deficiency. It is a 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. Defects in CPT2 are a cause of susceptibility to encephalopathy acute infection-induced type 4 (IIAE4). 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. Polymorphic variants in CPT2 can confer susceptibility to infection-induced encepalopathy. These 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). Belongs to the carnitine/choline acetyltransferase family. Protein type: EC 2.3.1.21; Mitochondrial; Lipid Metabolism - fatty acid; Transferase. Chromosomal Location of Human Ortholog: 1p32. Cellular Component: mitochondrial inner membrane; mitochondrion; nucleolus; nucleoplasm. Molecular Function: carnitine O-palmitoyltransferase activity. Biological Process: carnitine shuttle; fatty acid beta-oxidation. Disease: Carnitine Palmitoyltransferase Ii Deficiency, Infantile; Carnitine Palmitoyltransferase Ii Deficiency, Late-onset; Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal; Encephalopathy, Acute, Infection-induced, Susceptibility To, 4

0.1 mg

300 USD