CPT2 Polyclonal Antibody | MyBioSource MBS128147 product information

product summary

company name :

MyBioSource

product type :

antibody

product name :

CPT2 Polyclonal Antibody

catalog :

MBS128147

quantity :

0.05 mL

price :

230 USD

clonality :

polyclonal

host :

rabbit

conjugate :

nonconjugated

reactivity :

human, mouse, rat

application :

western blot, immunohistochemistry, immunocytochemistry

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS128147

products type :

Antibody

products full name :

CPT2 Polyclonal Antibody

products short name :

CPT2

products name syn :

CPT1; IIAE4; CPTASE

other names :

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

products gene name :

CPT2

other gene names :

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

uniprot entry name :

CPT2_HUMAN

clonality :

Polyclonal

isotype :

IgG

host :

Rabbit

reactivity :

Human, Mouse, Rat

sequence length :

658

purity :

Affinity Purification

concentration :

1mg/ml

storage stability :

Store at -20 degree C (regular) or -80 degree C (long term). Avoid freeze / thaw cycles.

tested application :

Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)

app notes :

WB: 1:500 - 1:2000. IHC: 1:50 - 1:100. IF: 1:50 - 1:100

other info1 :

Category: Primary Antibody. Species: Human. Route: Synthetic Peptide

other info2 :

Immunogen: A synthetic peptide of human CPT2. Calculated Molecular Weight: 74kDa. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

products categories :

Polyclonal

products description :

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.

ncbi gi num :

416836

ncbi acc num :

P23786.2

uniprot acc num :

P23786

ncbi mol weight :

658

ncbi pathways :

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 (160977); Import Of Palmitoyl-CoA Into The Mitochondrial Matrix Pathway (106108); Metabolism Pathway (477135); Metabolism Of Lipids And Lipoproteins Pathway (160976); Mitochondrial LC-Fatty Acid Beta-Oxidation Pathway (198817)

ncbi summary :

uniprot summary :

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; Transferase; Lipid Metabolism - fatty acid. Chromosomal Location of Human Ortholog: 1p32. Cellular Component: nucleoplasm; mitochondrion; mitochondrial inner membrane; nucleolus. Molecular Function: carnitine O-palmitoyltransferase activity. Biological Process: fatty acid beta-oxidation; cellular lipid metabolic process; carnitine shuttle. Disease: Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal; Carnitine Palmitoyltransferase Ii Deficiency, Infantile; Encephalopathy, Acute, Infection-induced, Susceptibility To, 4; Carnitine Palmitoyltransferase Ii Deficiency, Late-onset

size1 :

0.05 mL

price1 :

230 USD

size2 :

0.1 mL

price2 :

305

size3 :

0.2 mL

price3 :

460

more info or order :

MyBioSource product webpage