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中文人类
FH - Fumarate Hydratase
Alias:
MCL
FMRD
HsFH
LRCC
HLRCC
MCUL1
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这个基因编码的蛋白质是三羧酸(TCA)循环或克雷布斯循环的酶成分，催化从富马酸形成L-苹果酸。它以细胞质形式和N端延伸形式存在，区别仅在于使用的翻译起始位点。N端延伸形式定位到线粒体，其中去除延伸产生与细胞质中相同的形式。它与一些热稳定的II类富马酶相似，并作为同源四聚体发挥作用。这个基因的突变可引起富马酸酶缺乏，导致进行性脑病。[RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FH Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
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
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
