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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
LRP5 - LDL Receptor Related Protein 5
Alias:
HBM
LR3
OPS
EVR1
EVR4
LRP7
OPPG
BMND1
LRP-5
LRP-7
OPTA1
PCLD4
VBCH2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个跨膜低密度脂蛋白受体,它在受体介导的内吞过程中结合并内化配体。这个蛋白质还作为与Frizzled蛋白质家族成员共同受体,通过Wnt蛋白质传递信号,最初是根据它与人类1型糖尿病的关联而被克隆的。这个蛋白质在骨骼稳态中起关键作用,许多骨密度相关疾病是由这个基因的突变引起的。这个基因的突变还会导致家族性渗出性玻璃体视网膜病变。可变剪接导致多个转录变异体。[由RefSeq提供,2014年5月]
Related ID:
NCBI:4041
ENSEMBL:ENSG00000162337
HGNC:6697
UNIPROT:O75197
OMIM:603506
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4041
11
23
150864 bp
179.15
1795
16
27
45
LRP5 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Status
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Link
No data available
References Literature
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