- accession:NM_013391
- 基因别名:DMGDH
- 基因描述:Homo sapiens dimethylglycine dehydrogenase (DMGDH), transcript variant 1, mRNA.
- 载体:现货载体
- CDS区长度:2601
- 翻译后氨基酸长度:866
- TranscriptVariant:This variant (1) represents the longest transcript and encodes the supported protein.
- 基因简介:This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
- 规格:10ul 质粒
CDS区参考序列: 点击查看序列翻译后氨基酸参数序列: 点击查看序列