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中文人类
DMGDH - Dimethylglycine Dehydrogenase
Alias:
DMGDHD
ME2GLYDH
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这个基因编码一种参与胆碱分解的酶，催化二甲基甘氨酸氧化脱甲基化形成肌氨酸。该酶在线粒体基质中作为单体存在，并使用黄素腺嘌呤二核苷酸和叶酸作为辅因子。这个基因的突变导致二甲基甘氨酸脱氢酶缺乏症，其特征是鱼味体臭、慢性肌肉疲劳和血清中肌酸激酶肌肉形式的水平升高。可变剪接导致多个转录变异体。[RefSeq，2013年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DMGDH 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
