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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
THG1L - TRNA-histidine Guanylyltransferase 1 Like
Alias:
IHG1
THG1
ICF45
IHG-1
hTHG1
SCAR28
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是一种线粒体蛋白质,在高糖水平下被诱导产生,并与糖尿病性肾病有关。编码的蛋白质似乎增加了线粒体生物发生,这可能导致肾纤维化。这个蛋白质的另一个功能是鸟苷酸转移酶,将GMP添加到tRNA(His)的5'端。已经发现这个基因有几个编码不同异型的转录变体。[RefSeq,2015年12月提供]
Related ID:
NCBI:54974
ENSEMBL:ENSG00000113272
HGNC:26053
UNIPROT:Q9NWX6
OMIM:618802
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
54974
5
6
10030 bp
34.83
27
1
5
9
THG1L Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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No Data Found!
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