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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
ADAMTS18 - ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18
Alias:
KNO2
MMCAT
ADAMTS21
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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。ADAMTS家族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1型(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过程中被加工成成熟蛋白,这可能调节止血平衡并作为肿瘤抑制子发挥作用。这个基因的突变可能与人类患者的微小角膜、近视性脉络膜视网膜萎缩和远距内眦(MMCAT)以及视锥-视杆营养不良有关。[RefSeq,2016年5月提供]
Related ID:
NCBI:170692
ENSEMBL:ENSG00000140873
HGNC:17110
UNIPROT:Q8TE60
OMIM:607512
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
170692
4
23
152907 bp
135.17
1007
1
9
9
ADAMTS18 Genetics information (-)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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