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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
ADAM18 - ADAM Metallopeptidase Domain 18
Alias:
ADAM27
tMDCIII
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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。编码的前原原蛋白在蛋白水解过程中被加工成成熟的精子表面蛋白。可选的剪接导致多个转录变异体,至少其中一个编码经蛋白水解加工的异构体。[由RefSeq,2016年2月提供]
Related ID:
NCBI:8749
ENSEMBL:ENSG00000168619
HGNC:196
UNIPROT:Q9Y3Q7
OMIM:619495
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8749
3
20
145498 bp
82.86
27
--
5
5
ADAM18 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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