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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
SLC29A1 - Solute Carrier Family 29 Member 1 (Augustine Blood Group)
Alias:
AUG
ENT1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是平衡核苷转运蛋白家族的一员。这个基因编码一个定位在质膜和线粒体膜上的跨膜糖蛋白,并介导细胞从周围介质中摄取核苷。该蛋白被归类为平衡(与集中相反)转运蛋白,对硝苯甲基硫代肌苷(NBMPR)的抑制敏感。核苷转运蛋白对于缺乏新生核苷合成途径的细胞中的核苷酸合成是必需的,也是用于癌症和病毒化学治疗的细胞毒性核苷摄取所必需的。已经发现这个基因的多个可变剪接变体,编码相同的蛋白质。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2030
ENSEMBL:ENSG00000112759
HGNC:11003
UNIPROT:Q99808
OMIM:602193
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2030
12
13
14528 bp
50.22
17
1
10
25
SLC29A1 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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Type
Name
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CAS Number
Status
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Link
No data available
References Literature
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No Data Found!
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