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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
ANKRD13D - Ankyrin Repeat Domain 13D
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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ankyrin重复结构域(ANKRD)13家族的一员,目前这个家族由四个含有泛素互作基序的蛋白质组成。这些蛋白质是整合膜蛋白质,能够特异地结合膜结合蛋白质上的Lys-63连接的泛素链,从而将这些蛋白质靶向快速内化。[RefSeq, 2016年12月提供]
Related ID:
NCBI:338692
ENSEMBL:ENSG00000172932
HGNC:27880
UNIPROT:Q6ZTN6
OMIM:615126
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
338692
5
15
13182 bp
68.17
23
--
3
7
ANKRD13D Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Alphabetical
Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
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Status
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Link
No data available
References Literature
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