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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
CDH13 - Cadherin 13
Alias:
CDHH
P105
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个钙粘附蛋白超家族的成员。编码的蛋白质定位在细胞膜表面,并通过GPI部分锚定,而不是通过跨膜结构域。该蛋白质缺乏其他钙粘附蛋白的细胞质结构域特征,因此被认为不是细胞间粘附的糖蛋白。这个蛋白质在神经分化过程中作为轴突生长的负调控因子。它还可以保护血管内皮细胞免受氧化应激引起的凋亡,并与抵抗动脉粥样硬化有关。在许多类型的癌症中,该基因发生超甲基化。可选的剪接导致多个转录变异体,编码不同的异构体。[由RefSeq提供,2011年5月]
Related ID:
NCBI:1012
ENSEMBL:ENSG00000140945
HGNC:1753
UNIPROT:P55290
OMIM:601364
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
1012
9
14
1173672 bp
78.29
110
--
9
13
CDH13 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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