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
BHMT2 - Betaine--homocysteine S-methyltransferase 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
同型半胱氨酸是一种含硫氨基酸,在甲基化反应中起着关键作用。胆碱上的甲基基团转移到同型半胱氨酸上产生甲硫氨酸,甲硫氨酸将甲基基团捐赠给DNA、蛋白质、脂质和其他细胞内代谢物进行甲基化。这个基因编码的蛋白质是两种可以催化胆碱上的甲基基团转移到同型半胱氨酸的甲基转移酶之一。同型半胱氨酸代谢异常与从血管疾病到神经管出生缺陷(如脊柱裂)等病症有关。已发现这个基因的不同剪接转录变异体,它们编码不同的异构体。[RefSeq,2010年5月提供]
Related ID:
NCBI:23743
ENSEMBL:ENSG00000132840
HGNC:1048
UNIPROT:Q9H2M3
OMIM:605932
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
23743
2
8
20303 bp
40.35
21
--
2
6
BHMT2 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