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
HAAO - 3-hydroxyanthranilate 3,4-dioxygenase
Alias:
HAO
3-HAO
VCRL1
h3HAO
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
3-羟基邻氨基苯酸3,4-二加氧酶是一种单体的胞质蛋白,属于内含非血红素亚铁的分子内二加氧酶家族。它广泛分布在周围器官中,如肝和肾,也在中枢神经系统中以较低的量存在。HAAO催化从3-羟基邻氨基苯酸合成喹林酸(QUIN)。QUIN是一种兴奋毒素,其毒性是通过激活谷氨酸N-甲基-D-天门冬氨酸受体介导的。脑内QUIN水平增加可能参与神经和炎症疾病的病理生理。HAAO被认为与QUIN组织水平改变相关的疾病有关。[由RefSeq,2008年7月提供]
Related ID:
NCBI:23498
ENSEMBL:ENSG00000162882
HGNC:4796
UNIPROT:P46952
OMIM:604521
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23498
3
10
25495 bp
32.56
31
3
5
7
HAAO 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