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中文人类
MTRR - 5-methyltetrahydrofolate-homocysteine Methyltransferase Reductase
Alias:
MSR
cblE
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这个基因编码一个属于电子传递酶的ferredoxin-NADP(+)还原酶(FNR)家族的成员。这个蛋白质在合成甲硫氨酸的过程中，通过将甲硫氨酸合成酶恢复到一个功能状态中发挥作用。因为甲硫氨酸的合成需要由叶酸供体进行甲基转移，所以编码的酶的活性对叶酸代谢和细胞甲基化非常重要。这个基因的突变可能导致高半胱氨酸尿症-巨红细胞性贫血，cbl E型。这个基因的可变剪接导致多个转录变异体。[RefSeq,2015年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MTRR Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* 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
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
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CAS Number
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Phase
Link
References Literature
Title
PMID
Journal
Year
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