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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
LRP8 - LDL Receptor Related Protein 8
Alias:
MCI1
LRP-8
APOER2
HSZ75190
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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(LDLR)家族的一员。低密度脂蛋白受体是细胞表面蛋白质,在信号传导和受体介导的特定配体的内吞作用中发挥作用,以便在溶酶体中降解。编码的蛋白质在发育过程中在神经元的迁移中扮演关键角色,通过调节Reelin信号传导,同时也作为胆固醇运输蛋白载脂蛋白E的受体。这个基因的表达可能是重度抑郁症的标志。已经观察到这个基因的替代剪接转录变异体编码多种异构体。[RefSeq,2011年6月提供]
Related ID:
NCBI:7804
ENSEMBL:ENSG00000157193
HGNC:6700
UNIPROT:Q14114
OMIM:602600
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7804
4
19
85707 bp
105.63
51
1
11
19
LRP8 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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