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387787 LIPT2

387787

LIPT2

lipoyl(octanoyl) transferase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition lipoyl(octanoyl) transferase 2

研究结论

Date Results Publications
2017-09-09 12:46:00 The authors report on the identification of biallelic LIPT2 mutations in three affected individuals from two families with severe neonatal encephalopathy where a normalization of lipoylation was observed after expression of wild-type LIPT2, arguing for LIPT2 requirement in intramitochondrial lipoate synthesis. 28757203
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624

名称对应

Type IDs
Gene
UniProtKB-ID: LIPT2_HUMAN
UniprotKB: A6NK58
UniParc: UPI000013EFA7
EMBL: AP001372
Ensembl: ENSG00000175536
KO: hsa:387787
Nucleutide sequences
Ensembl_TRS: ENST00000310109
Protein sequencees
Ensembl_PRO: ENSP00000309463
RefSeq: NP_001316871.1, NP_001316870.1, NP_001138341.1
Others
UniRef100: UniRef100_A6NK58
UniRef90: UniRef90_A6NK58
UniRef50: UniRef50_A6NK58
UniGene: Hs.591971
CCDS: CCDS44679.1

全选

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研究热度

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