人类

BHMT2 - Betaine--homocysteine S-methyltransferase 2

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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]

Basic Information

NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
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

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!
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Comparison
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