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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
小鼠
Abcb11 - ATP-binding cassette, sub-family B (MDR/TAP), member 11
Alias:
Bsep
PGY4
SPGP
ABC16
Lith1
PFIC2
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
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)。这个蛋白属于MDR/TAP亚家族。MDR/TAP亚家族的成员参与多药抗性。这个基因编码的蛋白是人类和小鼠的主要胆盐通道转运体。这个人类基因的突变导致了一种进行性家族性肝内胆汁淤积的形式,这是一种从婴儿期起就具有严重胆汁淤积性肝病的一组遗传性疾病。[由RefSeq,2008年7月提供]
Related ID:
NCBI:27413
ENSEMBL:ENSMUSG00000027048
UNIPROT:Q9QY30
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
27413
3
28
104335 bp
146.75
6
9
Abcb11 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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