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
ALDH7A1 - Aldehyde Dehydrogenase 7 Family Member A1
Alias:
EPD
PDE
ATQ1
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醛脱氢酶基因家族第7子类的成员。这些酶被认为在酒精代谢和脂质过氧化产生的醛的解毒中起主要作用。这个特定的成员与之前描述的绿色花园豌豆中的一个蛋白质具有同源性,即26g豌豆胀大蛋白。它也参与已知发生在线粒体基质的赖氨酸分解代谢。最近的研究表明,这种蛋白质既存在于胞质溶胶中也存在于线粒体中,两种形式可能来自使用不同的翻译起始位点。还发现了一个编码不同异形体的额外变异体。这个基因的突变与吡哆醇依赖性癫痫有关。还发现了几个相关的假基因。[RefSeq,2011年1月提供]
Related ID:
NCBI:501
ENSEMBL:ENSG00000164904
HGNC:877
UNIPROT:P49419
OMIM:107323
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
501
3
18
53379 bp
58.49
848
3
9
14
ALDH7A1 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