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50640 PNPLA8

50640

PNPLA8

patatin like phospholipase domain containing 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition patatin like phospholipase domain containing 8

研究结论

Date Results Publications
2020-12-19 13:39:00 12-LOX catalyzes the oxidation of 2-arachidonoyl-lysolipids in platelets generating eicosanoid-lysolipids that are attenuated by iPLA2gamma knockout. 32161117
2019-05-25 11:38:00 we report two unrelated individuals with variable but similar clinical features of microcephaly, severe global developmental delay, spasticity, lactic acidosis, and progressive cerebellar atrophy with biallelic loss-of-function variants in PNPLA8. 29681094
2018-12-01 11:38:00 Stable isotope kinetics revealed that in non-failing human hearts, cPLA2zeta metabolically channels arachidonic acid into EETs, whereas in failing hearts, increased iPLA2gamma activity channels AA into toxic HETEs. These results mechanistically identify the sequelae of pathological remodeling of human mitochondrial phospholipases in failing myocardium. 29158256
2015-06-20 12:30:00 iPLA2gamma plays an important role in in vivo Thromboxane A2 production accompanied by thrombus formation. 25313821
2013-08-31 12:09:00 iPLA2gamma plays a cardioprotective role during the acute stage of Chagas' disease. 23429536

名称对应

Type IDs
Synonymous IPLA2-2, IPLA2G, MMLA, PNPLA-gamma, iPLA2gamma
Gene
UniProtKB-ID: PLPL8_HUMAN, A0A024R746_HUMAN
UniprotKB: Q9NP80, A0A024R746
UniParc: UPI0000073D34, UPI0000EE406A, UPI000006EBDA
EMBL: CH471070, AL834147, AF263613, CH236947, AB041261, BX647865, AC005058, AK024335, AK002115, BC032999, AF263947, AF217519
Ensembl: ENSG00000135241
KO: hsa:50640
Nucleutide sequences
EMBL-CDS: AAF75269.1, AAF81246.1, EAL24384.1, BAA92090.1, AAD08847.1, BAB14890.1, CAD38859.1, AAH32999.1, EAL24385.1, EAW83433.1, AAF67630.1, BAA94997.1, EAW83432.1, EAW83434.1, EAW83435.1
Gene_ORFName: BM-043, hCG_17116
Ensembl_TRS: ENST00000426128, ENST00000436062, ENST00000257694, ENST00000453144, ENST00000422087
Protein sequencees
Ensembl_PRO: ENSP00000387789, ENSP00000257694, ENSP00000406779, ENSP00000410804, ENSP00000394988
RefSeq: NP_001242938.1, XP_011514576.1, XP_005250453.1, NP_001242936.1, NP_001242939.1, NP_001242937.1, NP_001242940.1, XP_011514577.1, NP_056538.1, XP_016867750.1
Others
UniRef100: UniRef100_Q9NP80
UniRef90: UniRef90_Q9NP80
UniRef50: UniRef50_Q9NP80
UniGene: Hs.617340
CCDS: CCDS34733.1, CCDS59075.1, CCDS59508.1

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