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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
PCDH12 - Protocadherin 12
Alias:
DMJDS1
VECAD2
VE-cadherin-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因属于原粘附蛋白基因家族,是粘附蛋白超家族的子家族。编码的蛋白质由一个含有6个粘附蛋白重复序列的细胞外结构域,一个跨膜结构域和一个与经典粘附蛋白不同的细胞质尾组成。该基因定位在染色体5上原粘附蛋白基因簇所在的区域。这个转录本的外显子结构与基因簇转录本相似,特别是第一个大型外显子,但不存在显著的序列同源性。这个细胞粘附蛋白的功能尚未确定,但小鼠原粘附蛋白12不结合粘附素,似乎对细胞迁移或生长没有影响。[由RefSeq,2008年7月提供]
Related ID:
NCBI:51294
ENSEMBL:ENSG00000113555
HGNC:8657
UNIPROT:Q9NPG4
OMIM:605622
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51294
1
4
14622 bp
129.00
352
3
5
8
PCDH12 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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Name
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References Literature
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