DMGDH - dimethylglycine dehydrogenase Gene

Homo sapiens

Also known as DMGDHD; ME2GLYDH

Gene ID: 29958 | Gene type: protein coding

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

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03824	DMGDH Human Pre-designed siRNA Set A		/	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

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