Home
Toolbox
Resource
Workflow
Tutorials
Citations
Downloads
Mutation Al-Predictor Flow
Gene-to-Mutation Flow
News & Insights
Genetic Encyclopedia
Frontiers
Industry Insights
Case Studies
About Us
About the Site
Contact Us
Private Policy
User Agreement
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
Log In
|
Sign Up
中文
人类
VLDLR - Very Low Density Lipoprotein Receptor
Alias:
CAMRQ1
CARMQ1
CHRMQ1
VLDL-R
VLDLRCH
Create a favorites folder
Cancel
Confirm
Add To Favorites
Select a favorites
Description
New favorites >>
Cancel
Confirm
Favorite
Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
低密度脂蛋白受体(LDLR)基因家族是由参与特异性配体受体介导的内吞作用的细胞表面蛋白质组成的。这个基因编码一种脂蛋白受体,是LDLR家族的一员,在VLDL-甘油三酯代谢和reelin信号通路中扮演重要角色。这个基因的突变导致VLDLR相关的脊髓小脑发育不良。可变剪接产生多种转录变异体,编码这个基因的不同的异构体。[由RefSeq,2009年8月提供]
Related ID:
NCBI:7436
ENSEMBL:ENSG00000147852
HGNC:12698
UNIPROT:P98155
OMIM:192977
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7436
5
19
38270 bp
96.10
384
3
8
18
VLDLR Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Mutation Direct
Sequence
Comparison
Al agent
Tutorials
Back to top