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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
PIGZ - Phosphatidylinositol Glycan Anchor Biosynthesis Class Z
Alias:
SMP3
PIG-Z
GPI-MT-IV
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
糖基磷酯酰肌醇(GPI)锚定是一种在许多血细胞上发现的糖脂,用于将蛋白质锚定到细胞表面。这个基因编码一个定位在内质网上的蛋白质,并参与GPI锚定的生物合成。正如酵母同源物所示,它是依赖Dol-P-Man(Dol-P-Man)的甘露糖基转移酶家族成员,这个蛋白质也可以在GPI锚定的组装过程中向GPI前体添加侧枝的第四个甘露糖。[由RefSeq,2008年7月提供]
Related ID:
NCBI:80235
ENSEMBL:ENSG00000119227
HGNC:30596
UNIPROT:Q86VD9
OMIM:611671
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
80235
7
3
22478 bp
63.47
47
--
3
4
PIGZ Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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