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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
PCDH11Y - Protocadherin 11 Y-linked
Alias:
PCDHX
PCDHY
PCDH22
PCDH-PC
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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素家族,是粘附素超家族的子家族。编码的蛋白质由一个含有七个粘附素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素不同的质膜尾组成。这个基因位于Y染色体上的一块X/Y同源区,与其X染色体上的平行基因非常密切。蛋白质被认为在中枢神经系统发育过程中的细胞间识别中发挥重要作用。可变剪接导致多个转录变异体,编码不同的异构体。[RefSeq,2013年7月提供]
Related ID:
NCBI:83259
ENSEMBL:ENSG00000099715
HGNC:15813
UNIPROT:Q9BZA8
OMIM:400022
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
83259
8
6
741933 bp
146.78
1
--
3
6
PCDH11Y 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
Tissue-specific RNA expression
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Cell-specific RNA expression
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References Literature
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