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DMGDH - dimethylglycine dehydrogenase Gene

Also Known as DMGDHD; ME2GLYDH

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29958

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_013391.3	NP_037523.2	dimethylglycine dehydrogenase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables dimethylglycine dehydrogenase activity	IMP IMP: Inferred from mutant phenotype	11231903	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in choline catabolic process	IMP IMP: Inferred from mutant phenotype	10102904	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DMGDH Protein Structure

DAO

GCV_T

GCV_T_C

0
200
400
600
800
866 a.a.

Protein Preferred Names	Protein Names
dimethylglycine dehydrogenase, mitochondrial

DMGDH Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811117	DMGDH Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03824	DMGDH Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21556	Dmgdh Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28074	Dmgdh Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	DMGDH	NCBI