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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
PIGP - Phosphatidylinositol Glycan Anchor Biosynthesis Class P
Alias:
DCRC
DSRC
DEE55
DSCR5
PIG-P
DCRC-S
EIEE55
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种参与糖基磷酯酰肌醇(GPI)锚生物合成的第一个步骤的酶。GPI锚是一种存在于许多血细胞上的糖脂质,用于将蛋白质锚定在细胞表面。编码的蛋白质是GPI-N-乙酰葡萄糖胺转移酶复合物的组成部分,催化N-乙酰葡萄糖胺(GlcNAc)从UDP-GlcNAc转移到磷酸肌醇(PI)。这个基因位于染色体21的Down综合征关键区域,是Down综合征病理学候选基因。这个基因有多个假基因,是磷酸肌醇聚糖锚生物合成基因家族的成员。已经描述了编码不同异构体的替代剪接转录变异体。[由RefSeq,2016年2月提供]
Related ID:
NCBI:51227
ENSEMBL:ENSG00000185808
HGNC:3046
UNIPROT:P57054
OMIM:605938
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
51227
4
5
7708 bp
18.09
116
2
2
9
PIGP Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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Score
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No data available
Transcripts & Proteins
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#
Transcript
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No data available
* This data comes from NCBI.
Gene Expression
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Name
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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
No Data Found!
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