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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
PIGH - Phosphatidylinositol Glycan Anchor Biosynthesis Class H
Alias:
GPI-H
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个内质网相关蛋白,参与糖磷脂酰肌醇(GPI)锚的生物合成。GPI锚是一种存在于许多血细胞上的糖脂,用于将蛋白质锚定在细胞表面。这个基因编码的蛋白质是GPI N-乙酰葡萄糖胺(GlcNAc)转移酶的亚单位,该转移酶将GlcNAc转移到内质网胞质侧的磷脂酰肌醇(PI)上。[RefSeq,2008年7月提供]
Related ID:
NCBI:5283
ENSEMBL:ENSG00000100564
HGNC:8964
UNIPROT:Q14442
OMIM:600154
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5283
4
4
10996 bp
21.08
15
1
3
8
PIGH Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Cell-specific RNA expression
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Related Mouse Models
Type
Name
MGI
Strain of Origin
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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IF
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