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中文人类
MMUT - Methylmalonyl-CoA Mutase
Alias:
MCM
MUT
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这个基因编码线粒体的酶甲基胆氨酸辅酶A突变酶。在人类中，这个基因的产物是一种维生素B12依赖的酶，催化甲基胆氨酸辅酶A异构化为琥珀酸辅酶A，而在其他物种中，这个酶可能有不同的功能。这个基因的突变可能导致各种类型的甲基胆氨酸酸尿症。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MMUT 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
