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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
ADAMTS3 - ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3
Alias:
HKLLS3
ADAMTS-4
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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ADAMTS(整合素和金属蛋白酶与血栓素模序)蛋白家族的成员。这个家族的成员共享几个独特的蛋白质模块,包括前肽区域、金属蛋白酶结构域、整合素样结构域和血栓素类型1(TS)模序。这个家族的个别成员在C端TS模序的数量上有所不同,有些还具有独特的C端结构域。编码的前原蛋白在蛋白水解作用下生成成熟的蛋白酶。这个蛋白酶是蛋白质原氨基端肽酶亚家族的一员,可能在关节软骨中处理Ⅱ型原纤维胶原中发挥作用。[RefSeq,2016年2月提供]
Related ID:
NCBI:9508
ENSEMBL:ENSG00000156140
HGNC:219
UNIPROT:O15072
OMIM:605011
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9508
3
22
288253 bp
135.60
77
2
6
5
ADAMTS3 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
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Cell-specific RNA expression
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Type
Name
MGI
Strain of Origin
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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IF
No Data Found!
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