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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
LRPAP1 - LDL Receptor Related Protein Associated Protein 1
Alias:
RAP
MRAP
A2RAP
HBP44
MYP23
A2MRAP
alpha-2-MRAP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个与低密度脂蛋白(LDL)受体相关蛋白相互作用的蛋白质,通过防止配体的结合,促进其正确的折叠和定位。在患有近视的个体中已经发现了这个基因的突变。可选的剪接导致多个转录变异体。[由RefSeq,2013年12月提供]
Related ID:
NCBI:4043
ENSEMBL:ENSG00000163956
HGNC:6701
UNIPROT:P30533
OMIM:104225
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4043
1
8
28811 bp
41.47
47
2
4
25
LRPAP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
Score
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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Link
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References Literature
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