Type | Description |
---|---|
Definition | mitochondrial ribosomal protein S14 |
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 |
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
|
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---|---|---|---|---|---|---|---|---|
Refseq |
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