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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
PCDHB4 - Protocadherin Beta 4
Alias:
PCDH-BETA4
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是原粘附蛋白β基因簇的成员,这是三个在染色体5上串联连接的相关基因簇之一。这些基因簇展示了非典型的基因组组织,类似于B细胞和T细胞受体基因簇。β簇含有16个基因和3个假基因,每个基因编码6个细胞外的粘附蛋白结构域和一个与粘附蛋白超家族其他成员不同的细胞质尾。细胞外的结构域以亲同方式相互作用,以指定不同的细胞间连接。与α和γ簇不同,这些基因的转录本仅由一个大外显子组成,而不是像预期的那样共享共同的3’外显子。这些神经粘附蛋白样的细胞粘附蛋白是整合的质膜蛋白。它们的特定功能尚未知,但它们很可能在建立和特定细胞间神经连接的功能中起着关键作用。[由RefSeq,2008年7月提供]
Related ID:
NCBI:56131
ENSEMBL:ENSG00000081818
HGNC:8689
UNIPROT:Q9Y5E5
OMIM:606330
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
56131
1
1
3806 bp
87.27
63
--
7
3
PCDHB4 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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