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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
KGD4 - Alpha-ketoglutarate Dehydrogenase Subunit 4
Alias:
DC47
MRP-S36
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
哺乳动物线粒体核糖体蛋白由核基因编码,并在线粒体中帮助蛋白质合成。线粒体核糖体(mitoribosome)由一个小28S亚基和一个大39S亚基组成。与原核生物核糖体相比,它们的蛋白质与rRNA的比例估计为75%,而原核生物核糖体的比例则相反。哺乳动物线粒体核糖体与原核生物核糖体的另一个区别是后者含有5S rRNA。在不同物种中,组成线粒体核糖体的蛋白质在序列上差异很大,有时甚至在生物化学性质上也有所不同,这防止了通过序列同源性轻松识别。这个基因编码一个28S亚基蛋白。与这个基因相对应的假基因位于染色体3p、4q、8p、11q、12q和20p上。[由RefSeq,2008年7月提供]
Related ID:
NCBI:92259
ENSEMBL:ENSG00000134056
HGNC:16631
UNIPROT:P82909
OMIM:611996
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
92259
1
4
12399 bp
11.47
5
--
3
10
KGD4 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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