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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
XRN1 - 5'-3' Exoribonuclease 1
Alias:
SEP1
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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5'-3'核酸酶家族的一员。编码的蛋白质可能涉及依赖复制的组蛋白mRNA降解,并直接与mRNA去帽蛋白4的增强子相互作用。除了mRNA代谢外,酵母中类似的蛋白质已被证明具有多种核质功能,包括同源重组、减数分裂、端粒维持和微管组装。这个基因的突变与骨肉瘤有关,表明编码的蛋白质也可能在骨形成中发挥作用。可变剪接产生多种转录变异体。[RefSeq,2013年9月提供]
Related ID:
NCBI:54464
ENSEMBL:ENSG00000114127
HGNC:30654
UNIPROT:Q8IZH2
OMIM:607994
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54464
13
41
141428 bp
194.11
54
--
3
19
XRN1 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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