1. Gene
  2. DMGDH - dimethylglycine dehydrogenase Gene

DMGDH - dimethylglycine dehydrogenase Gene

中文名称:二甲基甘氨酸脱氢酶

种属: Homo sapiens

同用名: DMGDHD; ME2GLYDH

基因 ID: 29958 | 基因类型: protein coding

关于 DMGDH

Cytogenetic location: 5q14.1 Genomic coordinates (GRCh38): 5:78,997,564-79,069,674 (from NCBI)

This gene has 10 transcripts (splice variants), 203 orthologues, 10 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 31.5), liver (RPKM 24.3) and 1 other tissue.

功能概要

该基因编码参与胆碱分解代谢的酶,催化二甲基甘氨酸氧化去甲基化形成肌氨酸。该酶在线粒体基质中被发现为单体,并使用黄素腺嘌呤二核苷酸和叶酸作为辅助因子。该基因的突变导致二甲基甘氨酸脱氢酶缺乏症,其特征为鱼腥味、慢性肌肉疲劳和血清中肌肉形式的肌酸激酶水平升高。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 7 月]

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]

DMGDH 基因产物(1)

mRNA Protein Name
NM_013391.3 NP_037523.2 dimethylglycine dehydrogenase, mitochondrial precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables dimethylglycine dehydrogenase activity IMP
IMP: 通过突变表型推断
11231903 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in choline catabolic process IMP
IMP: 通过突变表型推断
10102904 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DMGDH 蛋白结构

DAO

DAO: FAD dependent oxidoreductase (52 - 414)

GCV_T

GCV_T: Aminomethyltransferase folate-binding domain (532 - 744)

GCV_T_C

GCV_T_C: Glycine cleavage T-protein C-terminal barrel domain (753 - 844)

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  • 866 a.a.
蛋白主名 其他名称

dimethylglycine dehydrogenase, mitochondrial

关联疾病

疾病名称 别名
Dimethylglycine Dehydrogenase Deficiency

Dmgdh Deficiency

DMGDHD

Dmg Dehydrogenase Deficiency

Deficiency, Dimethylglycine Dehydrogenase

Sarcosinemia

Sarcosine Dehydrogenase Complex Deficiency

Sard Deficiency

Sardh Deficiency

SARCOS

Hypersarcosinemia

Sardhd

Demethylation Defect Of N-Methylglycine

Histidinemia

Histidine Ammonia-Lyase Deficiency

Hal Deficiency

Histidase Deficiency

His Deficiency

Histidinuria

Hyperhistidinemia

HISTID

Histidinuria Renal Tubular Defect

Histidine Metabolism Disease

Disturbances Of Histidine Metabolism

Disorder Of Histidine Metabolism

Disturbance Of Histidine Metabolism

Hyperprolinemia, Type I

Proline Oxidase Deficiency

Hyperprolinemia Type 1

HYRPRO1

Hpi

Hyperprolinemia Type I

Hyperprolinemia 1

Proline Dehydrogenase Deficiency

Ataxia With Vitamin E Deficiency

Ataxia With Isolated Vitamin E Deficiency

AVED

Familial Isolated Vitamin E Deficiency

Friedreich-Like Ataxia

Familial Isolated Deficiency Of Vitamin E

Isolated Vitamin E Deficiency

Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency

Vitamin E Deficiency, Familial Isolated

Ved

Friedreich-Like Ataxia With Selective Vitamin E Deficiency

Five

Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency

Vitamin E Familial Isolated, Deficiency Of

Ataxia Friedreich-Like With Selective Vitamin E Deficiency

Glycine N-Methyltransferase Deficiency

GNMT DEFICIENCY

Hypermethioninemia Due To Glycine N-Methyltransferase Deficiency

Hypermethioninemia Due To Gnmt Deficiency

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency

Argininosuccinic Aciduria

Argininosuccinate Lyase Deficiency

Asl Deficiency

Argininosuccinic Acid Lyase Deficiency

Argininosuccinase Deficiency

Argininosuccinic Acidemia

Arginosuccinase Deficiency

Asa Deficiency

Argininosuccinicaciduria

Asauria

Deficiency Of Argininosuccinate Lyase

Asld

Arginino Succinase Deficiency

Argininosuccinate Acidemia

Inborn Error Of Urea Synthesis, Arginino Succinic Type

Urea Cycle Disorder, Arginino Succinase Type

Argininosuccinyl-Coa Lyase Deficiency

Asa

Argininosuccinatelyase Deficiency

ARGINSA

Aciduria Argininosuccinic

Citrullinemia

Argininosuccinic Acidaemia

Metabolic Disorder Of Arginosuccinic Acid

Trimethylaminuria

TMAU

Fish-Odor Syndrome

Fish Malodor Syndrome

Fish Odor Syndrome

Stale Fish Syndrome

Tmauria

Severe Primary Trimethylaminuria

Mesh

D008661

Fish Odour Syndrome

Mucopolysaccharidosis, Type Vi

Maroteaux-Lamy Syndrome

Arylsulfatase B Deficiency

Mucopolysaccharidosis Type Vi

Mps Vi

Mucopolysaccharidosis Vi

Mucopolysaccharidosis Type 6

MPS6

Arsb Deficiency

N-Acetylgalactosamine-4-Sulfatase Deficiency

Mucopolysaccharidosis 6

N-Acetylgalactosamine 4-Sulfatase Deficiency

Deficiency Of N-Acetylgalactosamine-4-Sulfatase

Maroteaux - Lamy Syndrome

Mps Vi - Maroteaux-Lamy Syndrome

Mps 6

Maroteaux Lamy Syndrome

Mucopoly-Saccharidosis Type Vi

Polydystrophic Dwarfism

Asb Deficiency

Mpsvi

Maroteaux-Lamy Disease

Arsb - [Arylsulfatase B] Deficiency

Aspartylglucosaminuria

Aspartylglycosaminuria

Glycosylasparaginase Deficiency

Aspartylglucosaminidase Deficiency

Aga Deficiency

AGU

Aspartylglucosamidase Deficiency

Glycoasparaginase

Aspartylglucosamidase Deficiency

Hyperammonemia, Type Iii

Iminoglycinuria

Iminoglycinuria, Digenic

IG

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta DMGDH VGNC VGNC:84292
Rattus norvegicus DMGDH RGD RGD:620453
Felis catus DMGDH VGNC VGNC:61526
Canis familiaris DMGDH VGNC VGNC:39999
Mus musculus DMGDH MGD MGI:1921379
Bos taurus DMGDH VGNC VGNC:28106