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
NDUFS6 - NADH:ubiquinone Oxidoreductase Subunit S6
Alias:
MC1DN9
CI-13kA
CI13KDA
CI-13kD-A
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NADH:泛醌氧化还原酶(复合物I)的一个亚基,该酶是线粒体电子传递链中的第一个酶复合物。这个复合物在将电子从NADH转移到呼吸链中发挥作用。这个基因编码的亚基是铁硫蛋白部分中的七个亚基之一。这个基因的突变导致线粒体复合物I缺乏,这是一种导致多种临床病症的疾病,包括新生儿疾病和成人发病的神经退行性疾病。[RefSeq,2009年10月提供]
Related ID:
NCBI:4726
ENSEMBL:ENSG00000145494
HGNC:7713
UNIPROT:O75380
OMIM:603848
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4726
1
4
14642 bp
13.71
175
2
4
11
NDUFS6 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