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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
ITIH3 - Inter-alpha-trypsin Inhibitor Heavy Chain 3
Alias:
H3P
SHAP
ITI-HC3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码预-α-胰蛋白酶抑制剂复合物的重链亚基。这个复合物可能通过其结合透明质酸的能力稳定细胞外基质。这个基因的多态性可能与精神分裂症和重度抑郁症的风险增加有关。这个基因存在于染色体3上的α-胰蛋白酶抑制剂家族基因簇中。[RefSeq,2015年7月提供]
Related ID:
NCBI:3699
ENSEMBL:ENSG00000162267
HGNC:6168
UNIPROT:Q06033
OMIM:146650
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
3699
10
22
14002 bp
99.85
49
--
3
9
ITIH3 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
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Abundance
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Interactions
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Acting
Regulation
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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
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Journal
Year
IF
No Data Found!
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