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中文人类
PCDH19 - Protocadherin 19
Alias:
DEE9
EFMR
EIEE9
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这个基因编码的蛋白质是cadherin超家族中的delta-2原粘附蛋白亚类的成员。编码的蛋白质被认为是一种主要表达在大脑中的依赖钙的细胞粘附蛋白。人类染色体X上这个基因的突变与散发性婴儿癫痫脑病和女性限制性癫痫发作（EFMR；也称为PCDH19RE）有关。已经发现这个基因有不同的转录变异体，编码不同的异构体。[由RefSeq，2017年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PCDH19 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
