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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
Cftr - cystic fibrosis transmembrane conductance regulator
Alias:
Abcc7
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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。这个基因编码囊性纤维化跨膜调节蛋白和一个氯离子通道,控制其他转运途径的调节。这个基因的突变与常染色体隐性疾病如囊性纤维化和中肾管发育不全有关。已经观察到外显子4, 5和11的交替剪接,但完整的长片段转录尚未完全描述。[由RefSeq,2008年7月提供]
Related ID:
NCBI:12638
ENSEMBL:ENSMUSG00000041301
UNIPROT:P26361
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12638
1
27
152084 bp
167.87
24
17
Cftr Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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