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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
ABCA7 - ATP Binding Cassette Subfamily A Member 7
Alias:
AD9
ABCX
ABCA-SSN
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是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)。这个蛋白质是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。这种完整的转运体主要存在于髓淋巴组织中,在外周白细胞、胸腺、脾和骨髓中的表达最高。这个蛋白质的功能尚不清楚,但其表达模式表明在免疫系统细胞的脂质稳态中发挥作用。[由RefSeq,2008年7月提供]
Related ID:
NCBI:10347
ENSEMBL:ENSG00000064687
HGNC:37
UNIPROT:Q8IZY2
OMIM:605414
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10347
18
47
25466 bp
234.35
228
2
10
17
ABCA7 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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