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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
ABCB1 - ATP Binding Cassette Subfamily B Member 1
Alias:
CLCS
MDR1
P-GP
PGY1
ABC20
CD243
GP170
p-170
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的膜关联蛋白是ATP结合盒(ABC)转运蛋白超家族的一员。ABC蛋白在细胞内外膜之间运输各种分子。ABC基因分为七个不同的亚家族(ABC1,MDR/TAP,MRP,ALD,OABP,GCN20,White)。这个蛋白是MDR/TAP亚家族的一员。MDR/TAP亚家族的成员参与多药抗性。这个基因编码的蛋白是一种广谱底物特异性的ATP依赖性外来化合物药物流出泵。它负责在多药抗性细胞中减少药物积累,并经常调节抗癌药物抗性的发展。这个蛋白还在血脑屏障中作为转运体发挥作用。这个基因的突变与秋水仙碱抗性和炎症性肠病13相关。替代剪接和替代启动子的使用产生了多种转录变异体。[RefSeq,2017年2月提供]
Related ID:
NCBI:5243
ENSEMBL:ENSG00000085563
HGNC:40
UNIPROT:P08183
OMIM:171050
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5243
4
28
210279 bp
141.48
663
2
11
27
ABCB1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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