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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
ADAM22 - ADAM Metallopeptidase Domain 22
Alias:
MDC2
DEE61
EIEE61
ADAM 22
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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。与其他ADAM蛋白家族成员不同,这个基因编码的蛋白质没有金属蛋白酶活性,因为它没有锌结合基序。这个基因在大脑中高度表达,可能在大脑中作为整合素的配体发挥作用。在小鼠中,已经证明它对外周神经系统中的正确髓鞘化是必不可少的。选择性剪接产生了几种转录变异体。[RefSeq,2010年12月提供]
Related ID:
NCBI:53616
ENSEMBL:ENSG00000008277
HGNC:201
UNIPROT:Q9P0K1
OMIM:603709
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
53616
32
32
268639 bp
100.43
68
1
9
12
ADAM22 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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