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4635 MYL4

4635

MYL4

myosin light chain 4

protein-coding

Homo sapiens

基因描述

Type Description
Definition myosin light chain 4

研究结论

Date Results Publications
2020-07-04 11:34:00 Metastable Atrial State Underlies the Primary Genetic Substrate for MYL4 Mutation-Associated Atrial Fibrillation. 31735076
2018-03-10 11:53:00 The authors describe in a population approach a loss of function mutation in the myosin gene MYL4 that, in the homozygous state, is completely penetrant for early-onset AF. The finding may provide novel mechanistic insight into the pathophysiology of this complex arrhythmia. 27742809
2016-09-17 10:12:00 a novel, heterozygous p.Glu11Lys mutation in the atrial-specific myosin light chain gene MYL4, caused atrial fibrillation. 27066836
2015-07-25 11:05:00 A recessive frameshift mutation in MYL4 causes early-onset atrial fibrillation. 25807286
2010-01-21 00:00:00 results demonstrate that the expression of hALC-1 could have a beneficial effect on the overloaded hypertrophied heart 16106982

名称对应

Type IDs
Synonymous ALC1, AMLC, GT1, PRO1957
Gene
UniProtKB-ID: MYL4_HUMAN
UniprotKB: P12829
UniParc: UPI000013C60D
EMBL: AF116676, M37074, X58853, BC030228, M37070, M37073, X58851, M37072, CH471231, M36172, X58852, M37069, X58854, X13955, M24121, M37071, M20641
Ensembl: ENSG00000198336
KO: hsa:4635
Nucleutide sequences
EMBL-CDS: AAA59856.1, EAW57684.1, AAH30228.1, AAF71096.1, CAA41655.1, EAW57685.1, AAA36319.1, AAA59858.1, CAA32137.1, AAA59891.1
Gene_ORFName: PRO1957
Ensembl_TRS: ENST00000572316, ENST00000354968, ENST00000393450
Protein sequencees
Ensembl_PRO: ENSP00000347055, ENSP00000461570, ENSP00000377096
RefSeq: XP_005257448.1, NP_002467.1, NP_001002841.1, XP_016880172.1, XP_011523141.2, XP_024306534.1
Others
UniRef100: UniRef100_P12829
UniRef90: UniRef90_P12829
UniRef50: UniRef50_P12829
UniGene: Hs.463300
CCDS: CCDS11510.1

全选

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