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8398 PLA2G6

8398

PLA2G6

phospholipase A2 group VI

protein-coding

Homo sapiens

基因描述

Type Description
Definition phospholipase A2 group VI

研究结论

Date Results Publications
2021-01-09 13:33:00 PLA2G6 guards placental trophoblasts against ferroptotic injury. 33087576
2020-12-05 12:58:00 Infantile onset progressive cerebellar atrophy and anterior horn cell Degeneration-A novel phenotype associated with mutations in the PLA2G6 gene. 31689548
2020-09-12 15:59:00 Impaired iPLA2beta activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA2beta activity as the cause of iron deposition in PLAN. 30707893
2020-08-01 15:05:00 Genetic testing of the PLA2G6 confirmed presence of compound heterozygous novel mutations in Malaysian siblings with infantile neuroaxonal dystrophy 1 31493991
2020-07-04 12:49:00 A novel compound heterozygous mutation of the PLA2G6 gene, c.1648delC and c.991G>T, is associated with adult onset ataxia. 31196701

名称对应

Type IDs
Synonymous CaI-PLA2, GVI, INAD1, IPLA2-VIA, NBIA2, NBIA2A, NBIA2B, PARK14, PLA2, PNPLA9, iPLA2, iPLA2beta
Gene
UniProtKB-ID: PLPL9_HUMAN
UniprotKB: O60733
UniParc: UPI000002B061, UPI00001310F3, UPI000002B060, UPI000002B062
EMBL: AF117690, AF116252, AF116265, AF116254, BC036742, AF116262, AF117678, AF117677, AY522921, AF117683, AF117679, AF116256, AF117685, AF117686, AF116263, AL080187, AL022322, CH471095, AF102988, AF116259, AF116267, AF116261, AF116266, AF102989, AF117687, AF117692, AF117681, AF117682, AK291212, AF116255, AF116264, AF117688, AF117684, CR456543, AF117691, AF064594, AF116258, AF116257, AF117680, BC051904, AF116253, AF116260, AF117689
Ensembl: ENSG00000184381
KO: hsa:8398
Nucleutide sequences
EMBL-CDS: AAD41722.1, BAF83901.1, AAF34728.1, AAH51904.1, AAD41723.1, CAG30429.1, EAW60220.1, AAC97486.1, CAB45768.2, EAW60219.1, AAR92478.1, AAH36742.2, AAD30424.1
Ensembl_TRS: ENST00000332509, ENST00000660610, ENST00000667521, ENST00000663895, ENST00000335539, ENST00000402064
Protein sequencees
Ensembl_PRO: ENSP00000499555, ENSP00000499665, ENSP00000499712, ENSP00000386100, ENSP00000333142, ENSP00000335149
RefSeq: NP_001336795.1, NP_001186491.1, NP_001336798.1, NP_001336794.1, NP_001336796.1, NP_003551.2, NP_001004426.1, NP_001336793.1, NP_001336797.1
Others
UniRef100: UniRef100_O60733
UniRef90: UniRef90_O60733
UniRef50: UniRef50_O60733
UniGene: Hs.170479
CCDS: CCDS13967.1, CCDS33645.1

全选

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研究热度

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