DMGDH

GENERAL INFORMATION

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Gene name

DMGDH

Gene description

Dimethylglycine dehydrogenase

Protein class

Disease related genes
Enzymes
Mitochondrial proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (kidney, liver)
GTEx:Group enriched (kidney, liver)

Protein evidence

Evidence at protein level

Protein localization

Selective granular cytoplasmic expression in liver and kidney.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA036441 , HPA036442
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression



GENE INFORMATION

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Gene name

DMGDH

Synonyms

Description

Dimethylglycine dehydrogenase (HGNC Symbol)

Entrez gene 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]

Chromosome

5

Cytoband

q14.1

Chromosome location (bp)

78997606 - 79236038

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000132837 (version 78.38)

Entrez gene

29958

UniProt

Q9UI17 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UI17

Antibodypedia

DMGDH antibodies


PROTEIN BROWSER

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ENST00000255189
 
ENST00000523732
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DMGDH-001 ENSP00000255189
ENST00000255189
Q9UI17
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Show » Show » 866 96.8 No 0
DMGDH-004 ENSP00000430972
ENST00000523732
Q8TCC6
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Show » Show » 613 69.3 No 0