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1376 CPT2

1376

CPT2

carnitine palmitoyltransferase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition carnitine palmitoyltransferase 2

研究结论

Date Results Publications
2020-04-11 10:25:00 in 416 patients of acute encephalopathy, including both severe and mild syndrome, minor allele frequency of rs2229291 was significantly higher in acute encephalopathy with biphasic seizures (p=0.044), MERS (p=0.015) and entire acute encephalopathy (p=0.044) compared to the controls. 31351739
2020-02-15 11:40:00 rs1799822 in the CPT2 gene is associated with the severity of EV71 encephalitis in Chinese children. 31201655
2019-12-21 10:17:00 We used metabolomics to demonstrate that inhibition of CDK9 leads to accumulation of acyl-carnitines, metabolic intermediates in fatty acid oxidation (FAO). Acyl-carnitines are produced by carnitine palmitoyltransferase enzymes 1 and 2 (CPT), and we used both genetic and pharmacological tools to show that inhibition of CPT-activity is synthetically lethal with CDK9 inhibition 31151054
2019-09-21 10:31:00 Lack of activation of the S113L variant of carnitine palmitoyltransfersase II by cardiolipin. 30604089
2019-03-30 12:43:00 The results show that AMPK activation by GSK773 evokes the slow, oxidative myogenic program and triggers beneficial phenotypic adaptations in FAO-deficient myotubes. Thus, GSK773 might have therapeutic potential for correction of CPT2 deficiency 30007356

名称对应

Type IDs
Synonymous CPT1, CPTASE, IIAE4
Gene
UniProtKB-ID: CPT2_HUMAN, A0A1B0GTB8_HUMAN, A0A140VK13_HUMAN
UniprotKB: P23786, A0A1B0GTB8, A0A140VK13
UniParc: UPI000387DC1F, UPI0000128303
EMBL: AK312687, U09645, U09644, HM005553, BC002445, BC005172, U09646, AL606760, U09643, U09648, CH471059, U09642, M58581
Ensembl: ENSG00000157184
KO: hsa:1376
Nucleutide sequences
EMBL-CDS: AAB60382.1, AAB60383.1, AAH05172.1, BAG35567.1, EAX06753.1, AAH02445.1, AAB59462.1, AEE61150.1
Ensembl_TRS: ENST00000371486, ENST00000636867
Protein sequencees
Ensembl_PRO: ENSP00000360541, ENSP00000489631
RefSeq: NP_001317518.1, NP_000089.1
Others
UniRef100: UniRef100_P23786, UniRef100_A0A1B0GTB8
UniRef90: UniRef90_P23786
UniRef50: UniRef50_P23786
UniGene: Hs.713535
CCDS: CCDS575.1

全选

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