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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
NT5C - 5', 3'-nucleotidase, Cytosolic
Alias:
DNT
cdN
DNT1
P5N2
PN-I
HEL74
PN-II
UMPH2
dNT-1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种核苷酸酶,能够催化5'脱氧核糖核苷酸(dNTP)和2'(3')-dNTP以及核糖核苷酸的脱磷酸化,但不能催化5'核糖核苷酸的脱磷酸化。在已特征化的核苷酸酶的不同形式中,这种酶以其对5'-dNTP的偏好性而独特。它可能是参与调节细胞中dNTP池大小的酶之一。已发现这个基因的替代剪接转录变异体。[RefSeq提供,2011年11月]
Related ID:
NCBI:30833
ENSEMBL:ENSG00000125458
HGNC:17144
UNIPROT:Q8TCD5
OMIM:191720
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
30833
3
5
1515 bp
23.38
15
--
2
10
NT5C Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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