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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
PCDHB6 - Protocadherin Beta 6
Alias:
PCDH-BETA6
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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基因簇的成员之一,这是三个在染色体5上串联连接的相关基因簇之一。这些基因簇展示了不同于α和γ簇的独特的基因组结构,与B细胞和T细胞受体基因簇相似。与α和γ簇不同,这些基因的转录本不共享共同的3'外显子。这些神经粘附蛋白类细胞粘附蛋白是整合膜蛋白,很可能在特定神经细胞间连接的建立和功能中起着关键作用。可变剪接导致多种转录本变异。[RefSeq,2014年12月提供]
Related ID:
NCBI:56130
ENSEMBL:ENSG00000113211
HGNC:8691
UNIPROT:Q9Y5E3
OMIM:606332
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
56130
2
1
3231 bp
87.32
53
--
3
4
PCDHB6 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Mutations
No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Cell-specific RNA expression
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References Literature
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No Data Found!
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