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中文人类
MMADHC - Metabolism Of Cobalamin Associated D
Alias:
cblD
C2orf25
CL25022
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这个基因编码一种线粒体蛋白，参与维生素B12代谢的早期步骤。维生素B12（钴胺素）对人类的正常发育和生存至关重要。这个基因的突变导致甲基丙酸血症和同型半胱氨酸尿症cblD型（MMADHC），一种钴胺素代谢障碍，其特点是腺苷钴胺素和甲基钴胺素辅酶水平降低。染色体11和X上已经发现了假基因。[RefSeq，2008年11月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
MMADHC 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
