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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
LRP1 - LDL Receptor Related Protein 1
Alias:
APR
KPA
LRP
A2MR
CD91
APOER
LRP1A
TGFBR5
IGFBP3R
IGFBP-3R
IGFBP3R1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码低密度脂蛋白受体家族蛋白质的一员。编码的前原蛋白被furin蛋白酶切割,生成515kDa和85kDa的亚基,形成成熟的受体(PMID: 8546712)。这个受体参与几个细胞过程,包括细胞内信号传导、脂质稳态和清除凋亡细胞。此外,编码的蛋白质对于α2-巨球蛋白介导的清除分泌的淀粉样前体蛋白和β-淀粉样蛋白是必要的,后者是阿尔茨海默病患者中发现的淀粉样斑的主要成分。这个基因的表达随年龄减少,并在阿尔茨海默病患者的大脑组织中表达低于对照组。[RefSeq,2015年10月提供]
Related ID:
NCBI:4035
ENSEMBL:ENSG00000123384
HGNC:6692
UNIPROT:Q07954
OMIM:107770
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4035
1
89
84879 bp
504.61
317
3
14
35
LRP1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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