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中文人类
MMACHC - Metabolism Of Cobalamin Associated C
Alias:
cblC
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这个基因编码的蛋白质的确切功能尚不清楚，但是它的C端区域与参与钴胺素（维生素B12）摄取的能量传递的细菌蛋白质TonB相似。因此，推测这个蛋白质可能在钴胺素的结合和细胞内转运中发挥作用。这个基因的突变与甲基丙二酸尿症和高同型半胱氨酸血症类型cblC有关。[由RefSeq提供，2009年10月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MMACHC 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
