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CPT1 is active on the outer surface of mitochondria and serves as a regulatory site for fatty acid oxidation due to its sensitivity for malonyl-CoA. CPT1b is the muscle isoform.
In subjects with PTSD, significant over-expression of CPT1B was also observed in the two common dysregulated pathways: fatty acid metabolism and PPAR.
Differential DNA methylation may underlie the depressed expression of CPT1B in response to lipid, contributing to the metabolic inflexibility associated with severe obesity.
E531K substitution in CPT1B decreases the mitochondrial beta-oxidation pathway, which increases the non-protein respiratory quotient value during recovery from exercise.
study identified a novel haplotype consisting of the indel variation, which had not been detected in previous studies in Japanese and Korean populations, and observed four single-nucleotide polymorphisms in CHKB/CPT1B
CPT1B heterozygous variants of G320D and S427C among control subjects showed significantly higher levels of total and free carnitine in the blood compared to acute myocardial infarction patients.
present results confirm the association of carnitine palmitoyltransferase 1B coding polymorphisms with the metabolic syndrome
Genetic mutations causative for McArdle disease, carnitine palmitoyl transferase deficiency 2, myoadenylate deaminase deficiency, and malignant hyperthermia have all been associated with Exertional rhabdomyolysis.
The study extends on the observation of a strong multiethnic association of polymorphisms in the TCRA and P2RY11 with narcolepsy, but does not confirm the association of CPT1B/CHKB (rs5770917) in the Chinese population.
C305 was replaceable with aspartic acid but that substitution with other amino acids caused both loss of function and reduced expression.
Genetic analysis, comparison, and tissue distribution of CPT1b
Leucine-764 near the extreme C-terminal end of carnitine palmitoyltransferase I is important for enzyme activity.
Transcriptional activation of the CPT1B promotor by peroxisome proliferator-activated receptors-alpha and myocyte-specific enhancer-binding-factor 2C.
muscle carnitine palmitoyltransferase I has a single cysteine residue (Cys-305) important for catalysis
Three replacements of nucleotides resulting in missense mutations of I66V, S427C, and E531K were observed in the M-CPTI gene of patients showing abnormal fatty acid metabolism
A single nucleotide polymorphism located between CPT1B and CHKB, was associated with narcolepsy in Japanese (rs5770917[C], odds ratio (OR) = 1.79, combined P = 4.4 x 10(-7)) and other ancestry groups (OR = 1.40, P = 0.02).
Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy was significantly associated with SNP rs5770917 (located between CPT1B and CHKB) and HLA-DRB1*1501-DQB1*0602 haplotype
There is a novel association between common nonsynonymous coding variants in CPT1B and ectopic skeletal muscle fat among middle-aged and older African ancestry men.
Recombinant pig carnitine palmitoyltransferase I beta has unique kinetic characteristics which make it a useful model to study the structure-function relationship of the CPTI enzymes.
Postnatal increases in CPT I activity during the suckling period are accompanied by increased tissue carnitine.
Suppression of CPT1B and induction of SCD and CEBPB by supplemental arginine promotes increased adiposity in Angus steers.
This study evaluated the effects of nonesterified fatty acids and glucose on carnitine palmitoyltransferase-I (CPT-I) mRNA expression in cultured bovine hepatocytes using real-time reverse transcription polymerase chain reaction and ELISA methods.
Cpt1b role in the mitochondrial fat oxidation in the lipid induced inffalmation in skeletal muscle.
Cardiac CPT-1b suppression protects against the aggravation of cardiac morphology and function associated with HFD feeding. CPT-1b represents a potential therapeutic target for the treatment of cardiac dysfunction related to metabolic diseases such as obesity and diabetes.
Data show that peroxisome-proliferator-activated receptor beta/delta (PPARbeta/delta) activation restored the lipid-induced endothelial dysfunction by up-regulation of carnitine palmitoyltransferase)-1 (CPT-1).
Data (including data from knockout and chimeric mice) suggest that Cpt1b is involved in myocardial function (but perhaps not in skeletal muscle function); knockout (and presumably inhibition) of Cpt1b results in cardiac hypertrophy and early death.
CPT1b deficiency can cause lipotoxicity in the heart under pathological stress, leading to exacerbation of cardiac pathology.
Data show that HIV protease inhibitors suppress fatty acid oxidation in skeletal muscle cells, which may be related to decreases in cytosolic- and mitochondrial-associated fatty acid transporters such as CD36 and carnitine palmitoyltransferase I .
Leptin reduces the sensitivity of cardiac CPT-I to malonyl-CoA.
detailed structure of gene 5'-region base sequence and amino acid sequence
Cpt1b transcripts are first and temporally detected at the 2-cell stage and reappear at the morula and blastocyst stage
Overall, the M-CPTI promoter was found to be necessary for the tissue-specific hormonal and dietary regulation of the gene expression.
lethality of homozygous CPT-1b deficiency in the mice is consistent with paucity of human cases.
role for brain CPT-1 in the regulation of energy balance
The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene.
carnitine O-palmitoyltransferase 1, muscle isoform
, carnitine O-palmitoyltransferase I, mitochondrial muscle isoform
, carnitine palmitoyltransferase I-like protein
, CPT I
, CPT-Ibeta 1
, CPT-Ibeta 3
, Carnitine palmitoyltransferase 1 beta, muscle isoform
, Carnitine palmitoyltransferase 1, muscle
, carnitine O-palmitoyltransferase I, muscle isoform
, carnitine palmitoyltransferase Ibeta 1
, carnitine palmitoyltransferase Ibeta 2
, carnitine palmitoyltransferase Ibeta 3
, carnitine palmitoyl transferase I muscle isoform
, carnitine palmitoyltransferase I
, carnitine palmitoyltransferase 1B
, carnitine palmitoyltransferase 1A like
, carnitine palmitoyltransferase 1B (muscle)
, carnitine palmitoyltransferase 1B-like
, carnitine O-palmitoyltransferase 1, muscle isoform-like
, muscle-type carnitine palmitoyltransferase I