CPT2 Antibodies

Carnitine O-palmitoyltransferase 2, mitochondrial (CPT2)

Gene Information

Human
Gene Name:	CPT2
Uniprot:	P23786
Entrez:	1376

Family

Belongs to:
carnitine/choline acetyltransferase family

Alternative Names

carnitine O-palmitoyltransferase 2, mitochondrial; carnitine palmitoyltransferase 2; Carnitine palmitoyltransferase IIEC 2.3.1.21; CPT II; CPT1; CPTASE

Molecular Weight

Mass (kDA):
73.777 kDA

Genomic Context

Human
Location:	1p32.3
Sequence:	1; NC_000001.11 (53196824..53214197)

Subcellular Localizations

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Diseases

• Carnitine Palmitoyltransferase Ii Deficiency
• Myopathy
• Hypoglycemia
• Rhabdomyolysis
• Long Chain Acyl-coa Dehydrogenase Deficiency
• Inborn Errors Of Metabolism
• Myalgia
• Pain
• Mitochondrial Myopathies
• Mitochondrial Diseases
• Diabetes Mellitus

• Encephalopathies
• Cardiomyopathies
• Sudden Death
• Medium-chain Acyl-coenzyme A Dehydrogenase Deficiency
• Acyl-coa Dehydrogenase, Very Long-chain Deficiency
• Fatty Liver

Pathways

• Fatty Acid Oxidation
• Transport
• Aging
• Fatty Acid Beta-oxidation
• Cell Death
• Carnitine Transport
• Translation
• Lipid Storage
• Pyruvate Oxidation
• Protein Targeting
• Fertilization
• Carbohydrate Utilization

• Oxidative Phosphorylation
• Developmental Maturation
• Cell Cycle Arrest
• Carnitine Shuttle
• Reverse Transcription
• Cell Cycle
• Segmentation

PTMs

• Oxidation

• Phosphorylation

For details, visit:
bosterbio.com/bosterbio-gene-info-cards/CPT2

Boster Bio - Best Uses Of The CPT2 Marker

This article examines the life and work of Steven Boster and the CPT2 marker. In it, we'll learn more about Steven's bio, His research, and His personal opinions about the CPT2 marker. In addition, we'll get an inside look at CPT2, a protein that is involved in the production of certain proteins and other compounds. Boster is the inventor of PicoKine, a proprietary ELISA platform that delivers high-sensitivity ELISA kits.

His research

Taroni, F. and colleagues studied the molecular genetics of CPT2 deficiency. The researchers found that the gene is associated with poor prognosis in patients with gastric cancer. Their results also revealed that gene silencing inhibited cell proliferation and etomoxir treatment blocked the cell cycle. They also tested FAO inhibition in colorectal cancer tissue samples and cell lines.

His views on CPT2

The mutation R503C in the gene encoding CPT2 may result in latent myopathy, a disorder of muscle regeneration that occurs only after exposure to a specific anesthetic. This mutation causes skeletal muscle pain in affected individuals and is therefore a likely cause of myoglobinuria. However, a lack of CPT2 can be a cause of latent myopathy.

The clinical severity of CPT2 deficiency is related to the type of mutation and the location of the mutation. While the location of the mutation is crucial, a phenotypic difference between affected individuals and controls is also important. For neonates, residual CPT2 activity is typically less than 10% of the control value. In adults, residual activity is significantly less than 20% of the control value. However, there are other genetic factors that influence the severity of the disease.

There is an increased risk of developing CPT II deficiency if one of the affected parents has the gene. The disorder is autosomal recessive, meaning that a carrier is at a 25% chance of having a child with the disorder. While genetic counseling is helpful for affected individuals, testing siblings for the disease may also be useful. It is also important to screen siblings of the index case to rule out any CPT II deficiency.

The results of this study indicate that heterozygotes carrying the gene for the c.338C-T mutation may be more likely to be affected than homozygotes carrying the gene. However, the c.338C-T mutation may be more prevalent in populations with limited genetic exchange. This finding highlights the need for greater awareness and research into this condition. As with all research, raw data supporting the conclusions in this manuscript are made freely available to qualified researchers.

Although most cases of carnitine palmitoyl transferase II deficiency are mild, the disorder may be serious. As a result, individuals with this mutation may suffer from malignant hyperthermia and variable myopathy. The most common mutation involves replacing the amino acid serine with leucine in position 113. It is important to note, however, that despite the severe nature of this condition, it is not fatal.