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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
CELSR1 - Cadherin EGF LAG Seven-pass G-type Receptor 1
Alias:
ME2
FMI2
CDHF9
HFMI2
ADGRC1
LMPHM9
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质是火烈鸟亚家族的成员,属于钙粘蛋白超家族。火烈鸟亚家族包括非经典类型的钙粘蛋白;一个不与猫跟蛋白相互作用的亚群。火烈鸟钙粘蛋白位于质膜上,其胞外域具有九个钙粘蛋白结构域、七个表皮生长因子样重复序列和两个鳞状细胞癌A G型重复序列。它们还具有七个跨膜结构域,这是这个亚家族所特有的。据推测,这些蛋白质是参与接触介导通信的受体,钙粘蛋白结构域作为同源结合区域,而EGF样结构域涉及细胞粘附和受体-配体相互作用。这个特定的成员是一个发育调节的、神经特异性的基因,在早期胚胎发生中扮演未指定的角色。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9620
ENSEMBL:ENSG00000075275
HGNC:1850
UNIPROT:Q9NYQ6
OMIM:604523
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
9620
6
35
176447 bp
329.49
364
3
13
7
CELSR1 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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