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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
PIGA - Phosphatidylinositol Glycan Anchor Biosynthesis Class A
Alias:
GPI3
PNH1
PIG-A
MCAHS2
NEDEPH
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种蛋白质,该蛋白质是GPI锚定的生物合成途径中的第一个中间产物,GPI锚定是一种糖脂,存在于许多血细胞上,用于将蛋白质锚定在细胞表面。阵发性睡眠性血红蛋白尿症是一种获得性血液系统疾病,已被证明是由这个基因的突变引起的。已表征了交替剪接变体。一个相关的假基因位于染色体12上。[RefSeq,2010年6月提供]
Related ID:
NCBI:5277
ENSEMBL:ENSG00000165195
HGNC:8957
UNIPROT:P37287
OMIM:311770
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5277
3
6
16104 bp
54.13
305
6
6
25
PIGA Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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