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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
ICA1 - Islet Cell Autoantigen 1
Alias:
ICA69
ICAp69
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有arfaptin同源结构的蛋白质,该蛋白质存在于细胞质中,并以膜结合形式存在于高尔基复合体和未成熟的分泌颗粒上。这个蛋白质被认为是在胰岛素依赖性糖尿病和原发性干燥综合症中的自身抗原。已经发现这个基因的几个转录变异体,编码两种不同的异构体。[RefSeq, 2013年2月提供]
Related ID:
NCBI:3382
ENSEMBL:ENSG00000003147
HGNC:5343
UNIPROT:Q05084
OMIM:147625
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3382
34
14
149372 bp
54.65
32
--
4
7
ICA1 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
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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