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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
ABCA6 - ATP Binding Cassette Subfamily A Member 6
Alias:
EST155051
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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和White)。这个编码的蛋白是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。这个基因与17q24上的其他4个ABC1家族成员聚集在一起,可能参与巨噬细胞脂质稳态。[RefSeq,2008年7月提供]
Related ID:
NCBI:23460
ENSEMBL:ENSG00000154262
HGNC:36
UNIPROT:Q8N139
OMIM:612504
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23460
1
39
63194 bp
184.29
78
--
6
7
ABCA6 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Name
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No data available
References Literature
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No Data Found!
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