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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
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人类
MTHFD1 - Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1
Alias:
CIMAH
MTHFC
MTHFD
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有三种不同酶活性的蛋白质:5,10-亚甲基四氢叶酸脱氢酶、5,10-甲烯基四氢叶酸环水解酶和10-甲酰四氢叶酸合成酶。这些活性中的每一个都在四氢叶酸的1-碳衍生物之间的相互转换中催化连续的三个反应之一,这些衍生物是甲硫氨酸、胸苷酸和新生嘌呤合成的底物。这三个酶活性是由两个主要结构域赋予的,一个是含有脱氢酶和环水解酶活性的氨基端部分,另一个是更大的合成酶结构域。[由RefSeq,2008年7月提供]
Related ID:
NCBI:4522
ENSEMBL:ENSG00000100714
HGNC:7432
UNIPROT:P11586
OMIM:172460
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
4522
2
28
71673 bp
101.53
386
3
7
23
MTHFD1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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CAS Number
Status
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Link
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References Literature
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No Data Found!
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