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
NDUFAF5 - NADH:ubiquinone Oxidoreductase Complex Assembly Factor 5
Alias:
C20orf7
MC1DN16
dJ842G6.1
bA526K24.2
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
线粒体呼吸链的NADH-泛醌氧化还原酶复合体(复合体I)催化电子从NADH转移到泛醌,并至少由43个亚基组成。该复合体位于线粒体内膜内。该基因编码一个与线粒体内膜基质面相关的线粒体蛋白质,并参与复合体I的组装。该基因的突变导致线粒体复合体I缺乏。已发现该基因有多个编码不同异型的转录变体。[RefSeq,2009年10月提供]
Related ID:
NCBI:79133
ENSEMBL:ENSG00000101247
HGNC:15899
UNIPROT:Q5TEU4
OMIM:612360
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
79133
13
11
36553 bp
38.92
364
3
4
9
NDUFAF5 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