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
SGCD - Sarcoglycan Delta
Alias:
SGD
DAGD
35DAG
CMD1L
SGCDP
LGMDR6
SG-delta
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
这个基因编码的蛋白质是肌联蛋白复合物(DGC)的一个亚复合物,该复合物是肌营养不良蛋白糖蛋白复合物的组成部分之一。DGC在F-肌动蛋白细胞骨架和细胞外基质之间形成连接。这个蛋白质在骨骼和心脏肌肉中表达最丰富。这个基因的突变与常染色体隐性遗传的肢带型肌营养不良和扩张性心肌病有关。已经观察到了这个基因的不同剪接转录变异体,它们编码不同的异构体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:6444
ENSEMBL:ENSG00000170624
HGNC:10807
UNIPROT:Q92629
OMIM:601411
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
6444
9
9
1039957 bp
32.07
644
6
5
9
SGCD 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