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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
ASGR1 - Asialoglycoprotein Receptor 1
Alias:
HL-1
ASGPR
ASGPR1
CLEC4H1
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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asialoglycoprotein受体的亚基。这个受体是一种跨膜蛋白,在血清糖蛋白稳态中扮演关键角色,通过介导具有暴露的末端半乳糖或N-乙酰半乳糖胺残基的糖蛋白的内吞作用和溶酶体降解。asialoglycoprotein受体可能促进多种病毒包括乙型肝炎的肝内感染,也是肝脏特异性的药物传递的靶点。asialoglycoprotein受体是一种异源寡聚蛋白,由主要和次要亚基组成,这些亚基由不同的基因编码。这个基因编码的蛋白质是更丰富的主要亚基。已经观察到这个基因的替代剪接转录变体编码多种异构体。[RefSeq,2011年1月提供]
Related ID:
NCBI:432
ENSEMBL:ENSG00000141505
HGNC:742
UNIPROT:P07306
OMIM:108360
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
432
3
9
5940 bp
33.19
9
--
5
13
ASGR1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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