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11222 MRPL3

11222

MRPL3

mitochondrial ribosomal protein L3

protein-coding

Homo sapiens

基因描述

Type Description
Definition mitochondrial ribosomal protein L3

研究结论

Date Results Publications
2012-09-08 10:30:00 Found MRPL3 S75N variant is probably a rare cause of Tourette syndrome/chronic tic phenotype in Chinese Han patients. 22507240
2012-06-02 11:34:00 the first mutation in large mitochondrial ribosomal protein MRPL3 in a family of four sibs with hypertrophic cardiomyopathy, psychomotor retardation, and multiple respiratory chain deficiency.(MRPL3) 21786366
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624

名称对应

Type IDs
Synonymous COXPD9, MRL3, RPML3
Gene
UniProtKB-ID: RM03_HUMAN
UniprotKB: P09001
UniParc: UPI00001342B4
EMBL: BC003375, CH471052, CR456720, X06323
Ensembl: ENSG00000114686
KO: hsa:11222
Nucleutide sequences
EMBL-CDS: AAH03375.1, CAA29639.1, EAW79209.1, CAG33001.1
Ensembl_TRS: ENST00000264995
Protein sequencees
Ensembl_PRO: ENSP00000264995
RefSeq: NP_009139.1
Others
UniRef100: UniRef100_P09001
UniRef90: UniRef90_P09001
UniRef50: UniRef50_P09001
UniGene: Hs.205163
CCDS: CCDS3071.1

全选

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研究热度

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