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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
RPL27 - Ribosomal Protein L27
Alias:
L27
eL27
DBA16
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
核糖体,催化蛋白质合成的细胞器,由一个小40S亚基和一个大60S亚基组成。这些亚基由四种RNA和大约80种结构上不同的蛋白质组成。这个基因编码一个L27e家族核糖蛋白成员,并作为60S亚基的一部分。在这个基因中发现的剪接位点突变已在钻石-黑fan贫血(DBA)患者中鉴定出。与编码核糖蛋白的基因的典型情况一样,这个基因的多个加工假基因散布在整个基因组中。[RefSeq,2017年3月提供]
Related ID:
NCBI:6155
ENSEMBL:ENSG00000131469
HGNC:10328
UNIPROT:P61353
OMIM:607526
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6155
3
5
4687 bp
15.80
31
2
3
18
RPL27 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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References Literature
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