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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
ABCF1 - ATP Binding Cassette Subfamily F Member 1
Alias:
ABC27
ABC50
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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)转运子超家族的一员。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GCN20亚家族的成员。与其他超家族成员不同,这个蛋白质缺乏大多数ABC转运子所具有的跨膜结构域。这个蛋白质可能受到肿瘤坏死因子-α的调节,并在增强蛋白质合成和炎症过程中发挥作用。[由RefSeq,2008年7月提供]
Related ID:
NCBI:23
ENSEMBL:ENSG00000204574
HGNC:70
UNIPROT:Q8NE71
OMIM:603429
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23
2
25
20081 bp
95.93
38
--
3
21
ABCF1 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
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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