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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
ADAMTS12 - ADAM Metallopeptidase With Thrombospondin Type 1 Motif 12
Alias:
PRO4389
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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-1)模序。这个家族的个别成员在C端TS-1模序的数量上有所不同,有些还具有独特的C端结构域。这个基因编码的酶含有8个TS-1模序。它可能在胎儿发育过程中的肺细胞中发挥作用,或者通过其蛋白水解活性或作为潜在参与细胞粘附调控的分子参与肿瘤过程。[RefSeq,2008年7月提供]
Related ID:
NCBI:81792
ENSEMBL:ENSG00000151388
HGNC:14605
UNIPROT:P58397
OMIM:606184
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
81792
8
24
368456 bp
177.68
85
--
6
8
ADAMTS12 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
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Mutations
No data available
Transcripts & Proteins
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Transcript
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CDS(bp)
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Length(aa)
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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CAS Number
Status
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Link
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References Literature
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No Data Found!
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