Recombinant Human Carnitine O-palmitoyltransferase 1, muscle isoform (CPT1B)

1. 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. PMID:26041663
2. In subjects with PTSD, significant over-expression of CPT1B was also observed in the two common dysregulated pathways: fatty acid metabolism and PPAR. PMID:26080315
3. Differential DNA methylation may underlie the depressed expression of CPT1B in response to lipid, contributing to the metabolic inflexibility associated with severe obesity. PMID:26058865
4. E531K substitution in CPT1B decreases the mitochondrial beta-oxidation pathway, which increases the non-protein respiratory quotient value during recovery from exercise. PMID:24905907
5. 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 PMID:24571861
6. 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. PMID:23566841
7. present results confirm the association of carnitine palmitoyltransferase 1B coding polymorphisms with the metabolic syndrome PMID:22809552
8. Genetic mutations causative for McArdle disease, carnitine palmitoyl transferase deficiency 2, myoadenylate deaminase deficiency, and malignant hyperthermia have all been associated with Exertional rhabdomyolysis. PMID:22538307
9. 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. PMID:22177342
10. C305 was replaceable with aspartic acid but that substitution with other amino acids caused both loss of function and reduced expression. PMID:19937377
11. Genetic analysis, comparison, and tissue distribution of CPT1b PMID:12015320
12. Leucine-764 near the extreme C-terminal end of carnitine palmitoyltransferase I is important for enzyme activity. PMID:12565845
13. Transcriptional activation of the CPT1B promotor by peroxisome proliferator-activated receptors-alpha and myocyte-specific enhancer-binding-factor 2C. PMID:15356291
14. muscle carnitine palmitoyltransferase I has a single cysteine residue (Cys-305) important for catalysis PMID:15579906
15. 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 PMID:17987377
16. 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). PMID:18820697
17. 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 PMID:19404393
18. 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. PMID:19553926

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HGNC: 2329

UNIGENE: Hs.439777

KEGG: hsa:1375

STRING: 9606.ENSP00000312189

OMIM: 601987