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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
GPC3 - Glypican 3
Alias:
SGB
DGSX
MXR7
SDYS
SGBS
OCI-5
SGBS1
GTR2-2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
细胞表面的肝素硫酸糖蛋白聚糖是由一个膜相关蛋白质核心和可变数量的肝素硫酸酯链组成的。糖蛋白相关整膜蛋白聚糖家族(GRIPS)的成员包含一个通过糖基磷酯酰肌醇连接锚定到细胞质膜的核心蛋白质。这些蛋白质可能参与细胞分裂和生长调节的控制。这个基因编码的蛋白质可以结合并抑制CD26的二肽肽酶活性,并在某些细胞类型中诱导凋亡。这个基因的缺失突变与Simpson-Golabi-Behmel综合征(也称为Simpson畸形综合征)有关。可变剪接导致多个转录变异体。[RefSeq, 2009年9月提供]
Related ID:
NCBI:2719
ENSEMBL:ENSG00000147257
HGNC:4451
UNIPROT:P51654
OMIM:300037
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2719
5
8
449850 bp
65.56
769
2
6
21
GPC3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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