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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
TDG - Thymine DNA Glycosylase
Alias:
hTDG
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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属于TDG/mug DNA糖基化酶家族。胸腺嘧啶-DNA糖基化酶(TDG)通过水解DNA糖磷酸骨架与错配胸腺嘧啶之间的碳-氮键,从G/T错配中移除胸腺嘧啶部分。该酶的活性较低,还可以从C/T和T/T错配中移除胸腺嘧啶。TDG还可以从与鸟嘌呤的错配中移除尿嘧啶和5-溴尿嘧啶。这种酶在细胞防御中扮演着中心角色,以防止由5-甲基胞嘧啶和胞嘧啶的自发脱氨基引起的遗传突变。这个基因在染色体12的p臂上可能有一个假基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6996
ENSEMBL:ENSG00000139372
HGNC:11700
UNIPROT:Q13569
OMIM:601423
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6996
6
10
23003 bp
46.05
9
--
7
19
TDG Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
Length(nt)
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* This data comes from NCBI.
Gene Expression
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Name
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