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3931 LCAT

3931

LCAT

lecithin-cholesterol acyltransferase

protein-coding

Homo sapiens

基因描述

Type Description
Definition lecithin-cholesterol acyltransferase

研究结论

Date Results Publications
2021-03-27 14:42:00 ApoE and apoC-III-defined HDL subtypes: a descriptive study of their lecithin cholesterol acyl transferase and cholesteryl ester transfer protein content and activity. 32450892
2020-09-12 16:02:00 LCAT, ApoD, and ApoA1 Expression and Review of Cholesterol Deposition in the Cornea. 31779197
2020-04-04 10:57:00 The P274S LCAT mutation was found to cause familial LCAT deficiency with renal involvement. 31103331
2020-01-11 11:46:00 7 putative enhancers harboring associated single nucleotide polymorphisms were identified, 3 of which lie within the introns of LCAT and ABCA1, genes that play crucial roles in cholesterol biogenesis and lipoprotein metabolism. 31039173
2019-12-14 10:39:00 Genetic, biochemical, in vitro and in silico analyses indicate that the rare mutations p.M404 V and p.V333 M in LCAT gene lead to suppression of LCAT enzyme activity and cause clinical features of familial LCAT deficiency. 31164121

名称对应

Type IDs
Gene
UniProtKB-ID: LCAT_HUMAN, A0A140VK24_HUMAN
UniprotKB: P04180, A0A140VK24
UniParc: UPI0000000DE7
EMBL: M17959, BC014781, HM005564, AY422210, BT009748, M12625, X04981, CH471092, M26268, X06537, AC040162
Ensembl: ENSG00000213398
KO: hsa:3931
Nucleutide sequences
EMBL-CDS: AAA59498.1, AAP88750.1, AAR03499.1, EAW83190.1, AAA59500.1, CAB56610.1, CAA28651.1, AAH14781.1, AAA59499.1, AEE61161.1
Ensembl_TRS: ENST00000264005
Protein sequencees
Ensembl_PRO: ENSP00000264005
RefSeq: NP_000220.1
Others
UniRef100: UniRef100_P04180
UniRef90: UniRef90_P04180
UniRef50: UniRef50_P04180
UniGene: Hs.387239
CCDS: CCDS10854.1

全选

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