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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
ADAM30 - ADAM Metallopeptidase Domain 30
Alias:
svph4
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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ADAM(整合素和金属蛋白酶结构域)家族的一员。这个家族的成员是结构上与蛇毒整合素有关的膜锚定蛋白,与细胞间和细胞基质相互作用的各种生物过程有关,包括受精、肌肉发育和神经发生。这个基因是睾丸特异性的,包含一个多态性区域,导致具有不同数量C端重复的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:11085
ENSEMBL:ENSG00000134249
HGNC:208
UNIPROT:Q9UKF2
OMIM:604779
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
11085
1
1
2983 bp
88.94
31
--
4
6
ADAM30 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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