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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
PCDHGB7 - Protocadherin Gamma Subfamily B, 7
Alias:
ME6
PCDH-GAMMA-B7
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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γ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。这些基因簇具有免疫球蛋白样的结构,提示一种新的机制可能参与它们的调控和表达。γ基因簇包括22个基因,分为3个亚家族。亚家族A包含12个基因,亚家族B包含7个基因和2个假基因,而较远相关的亚家族C包含3个基因。22个大、可变区域外显子串联阵列后面是一个恒定区域,该恒定区域包含由簇中所有基因共享的3个外显子。每个可变区域外显子编码细胞外区域,该区域包括6个钙粘蛋白外域和一个跨膜区域。恒定区域外显子编码共同的细胞质区域。这些神经粘附蛋白可能在大脑中建立和特定细胞间连接的功能中起关键作用。已经描述了γ簇基因的替代剪接。[由RefSeq,2008年7月提供]
Related ID:
NCBI:56099
ENSEMBL:ENSG00000254122
HGNC:8714
UNIPROT:Q9Y5F8
OMIM:606304
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
56099
2
4
95299 bp
100.97
223
1
1
2
PCDHGB7 Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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