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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
PCDHA9 - Protocadherin Alpha 9
Alias:
PCDH-ALPHA9
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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α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,它们展示了类似于B细胞和T细胞受体基因簇的不寻常的基因组组织。α基因簇由15个与小鼠CNR基因相关的粘附蛋白超家族基因组成,包括13个高度相似和2个较远亲缘的编码序列。15个N端外显子或可变外显子的串联阵列,后面是下游的C端外显子或恒定外显子,这些外显子由簇中所有基因共享。大型的不间断的N端外显子每个编码六个粘附蛋白外域,而C端外显子编码胞质结构域。这些神经粘附蛋白样的细胞粘附蛋白是整合的质膜蛋白,很可能在大脑中建立和执行特定的细胞间连接中起着关键作用。已经观察到了可变剪接,并提出了额外的变异体,但它们的全长性质尚未确定。[由RefSeq,2008年7月提供]
Related ID:
NCBI:9752
ENSEMBL:ENSG00000204961
HGNC:8675
UNIPROT:Q9Y5H5
OMIM:606315
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
9752
2
4
164576 bp
102.40
352
--
2
4
PCDHA9 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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