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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
Abcc2 - ATP-binding cassette, sub-family C (CFTR/MRP), member 2
Alias:
Mrp2
cMRP
Abc30
Cmoat
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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)。这个蛋白是MRP亚家族的一员,与多药抗性有关。这个蛋白在肝细胞胆液面的通道表面和胆盐运输中发挥作用,并似乎对哺乳动物细胞的药物抗性有贡献。在人基因中发现的几个不同突变已在患有Dubin-Johnson综合征(DJS)的患者中观察到,这是一种特征为结合性高胆红素血症的常染色体隐性疾病。已经观察到了这个基因的替代剪接变体;然而,它们尚未被完全描述。[由RefSeq,2008年7月提供]
Related ID:
NCBI:12780
ENSEMBL:ENSMUSG00000025194
UNIPROT:Q8VI47
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12780
2
32
56025 bp
173.67
3
2
Abcc2 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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