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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
NOP56 - NOP56 Ribonucleoprotein
Alias:
NOL5A
SCA36
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
核仁蛋白Nop56p是一种与核仁蛋白Nop58p和纤丝蛋白共同构成复合物的酵母蛋白。Nop56p是组装60S核糖体亚基所必需的,并参与预rRNA加工。这个基因的间隔区内GGCCTG重复序列从3-8拷贝扩增到1500-2500拷贝,导致脊髓小脑性共济失调36。这个基因的多顺反子变异编码几种不同的异构体,但其中大多数的全长性质尚未确定。[RefSeq,2016年7月提供]
Related ID:
NCBI:10528
ENSEMBL:ENSG00000101361
HGNC:15911
UNIPROT:O00567
OMIM:614154
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10528
1
12
5762 bp
66.05
34
1
1
26
NOP56 Genetics information (+)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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