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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
RRM2B - Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B
Alias:
P53R2
RCDFRD
MTDPS8A
MTDPS8B
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码p53诱导型核糖核苷酸还原酶的小亚基。这个异四聚酶催化核糖核苷酸二磷酸转化为脱氧核糖核苷酸二磷酸。这个反应的产物对DNA合成是必需的。这个基因的突变与常染色体隐性线粒体DNA耗竭综合征、常染色体显性进行性外展眼肌麻痹-5和线粒体神经胃肠病脑病有关。已经描述了可替代剪接的转录变异体。[RefSeq,2010年2月提供]
Related ID:
NCBI:50484
ENSEMBL:ENSG00000048392
HGNC:17296
UNIPROT:Q7LG56
OMIM:604712
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
50484
3
9
34461 bp
40.74
303
9
6
18
RRM2B Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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Status
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References Literature
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No Data Found!
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