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63931 MRPS14

63931

MRPS14

mitochondrial ribosomal protein S14

protein-coding

Homo sapiens

基因描述

Type Description
Definition mitochondrial ribosomal protein S14

研究结论

Date Results Publications
2019-06-22 10:59:00 our data demonstrate pathogenic mutations in MRPS14 can manifest as a perinatal-onset mitochondrial hypertrophic cardiomyopathy with a novel molecular pathogenic mechanism that impairs the function of mitochondrial ribosomes during translation elongation or mitochondrial mRNA recruitment rather than assembly. 30358850
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624

名称对应

Type IDs
Synonymous DJ262D12.2, HSMRPS14, MRP-S14, S14mt
Gene
UniProtKB-ID: RT14_HUMAN
UniprotKB: O60783
UniParc: UPI00000747E5
EMBL: BC009788, Z99297, AL049705
Ensembl: ENSG00000120333
KO: hsa:63931
Nucleutide sequences
EMBL-CDS: AAH09788.1, CAB41269.1
Ensembl_TRS: ENST00000476371
Protein sequencees
Ensembl_PRO: ENSP00000420714
RefSeq: NP_071383.1
Others
UniRef100: UniRef100_O60783
UniRef90: UniRef90_O60783
UniRef50: UniRef50_O60783
UniGene: Hs.654858
CCDS: CCDS1316.1

全选

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