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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
Abca1 - ATP-binding cassette, sub-family A (ABC1), member 1
Alias:
Abc1
ABC-1
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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ABC1亚家族的一员。ABC1亚家族的成员是仅存在于多细胞真核生物中的主要ABC亚家族。在人类中,这个蛋白作为胆固醇流出泵在细胞脂质去除途径中发挥作用。人类基因的突变与唐杰尔病和家族性高密度脂蛋白缺乏症有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:11303
ENSEMBL:ENSMUSG00000015243
UNIPROT:P41233
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11303
3
50
129200 bp
253.91
12
15
Abca1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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