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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
ADAM11 - ADAM Metallopeptidase Domain 11
Alias:
MDC
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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)蛋白家族的成员。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蛋白酶。这个基因代表一个人类乳腺癌的候选肿瘤抑制基因,基于它位于17q21号染色体的一个最小区域,该区域以前由肿瘤缺失制图法定义。可变剪接产生多个转录变异体,至少其中一个编码一种经过蛋白水解加工的异构体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:4185
ENSEMBL:ENSG00000073670
HGNC:189
UNIPROT:O75078
OMIM:155120
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4185
4
27
22859 bp
83.42
31
--
6
6
ADAM11 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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Length(aa)
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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References Literature
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