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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
ABCB4 - ATP Binding Cassette Subfamily B Member 4
Alias:
GBD1
ICP3
MDR2
MDR3
PGY3
ABC21
MDR2/3
PFIC-3
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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耐药和抗原呈递。这个基因编码一个完整的转运体,是膜蛋白p-糖蛋白家族的成员,磷脂酰胆碱是其底物。这个蛋白的功能尚未确定,但可能涉及将磷脂从肝脏肝细胞转运到胆汁中。这个基因的可变剪接产生了几个功能未知的产品。[由RefSeq,2008年7月提供]
Related ID:
NCBI:5244
ENSEMBL:ENSG00000005471
HGNC:45
UNIPROT:P21439
OMIM:171060
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5244
8
28
110132 bp
141.52
524
7
7
37
ABCB4 Genetics information (-)
GRCh38
Sequence Homology
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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