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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
ABCB5 - ATP Binding Cassette Subfamily B Member 5
Alias:
ABCB5beta
EST422562
ABCB5alpha
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
ABCB5 属于整合膜蛋白的ATP结合盒(ABC) 超家族。这些蛋白质参与ATP依赖的跨膜运输,运输的结构多样的分子,从小离子、糖和肽到更复杂的有机分子。
Related ID:
NCBI:340273
ENSEMBL:ENSG00000004846
HGNC:46
UNIPROT:Q2M3G0
OMIM:611785
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
340273
4
28
141342 bp
138.64
61
--
5
17
ABCB5 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Status
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References Literature
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