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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
SMG7 - SMG7 Nonsense Mediated MRNA Decay Factor
Alias:
EST1C
SGA56M
C1orf16
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个对于终止密码子介导的mRNA降解(NMD)过程至关重要的蛋白质;这个过程通过一个mRNA降解复合物将含有提前终止密码子的转录物作为目标进行快速降解。这个mRNA降解复合物部分由这个蛋白质、SMG5蛋白质和UPF1蛋白质组成。这个蛋白质的N端被认为介导其与SMG5或UPF1的相互作用,而C端与mRNA降解复合物相互作用。因此,这个蛋白质可能将UPF1磷酸化状态的变化与NMD候选转录物的降解耦合。不同的剪接方式导致了多个转录变体,编码不同的等位基因。[由RefSeq提供,2011年8月]
Related ID:
NCBI:9887
ENSEMBL:ENSG00000116698
HGNC:16792
UNIPROT:Q92540
OMIM:610964
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9887
31
23
81693 bp
127.28
42
--
4
20
SMG7 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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