2. Gene
  3. MDH2 - malate dehydrogenase 2 Gene

MDH2 - malate dehydrogenase 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MDH; MOR1; DEE51; M-MDH; EIEE51; MGC:3559

Gene ID: 4191 | Gene type: protein coding

About MDH2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:76,048,106-76,067,508 (from NCBI)

This gene has 8 transcripts (splice variants), 236 orthologues, 5 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 76.5), duodenum (RPKM 46.8) and 25 other tissues.

Summary

Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

MDH2 Products(3)

mRNA Protein Name
NM_001282403.2 NP_001269332.1 malate dehydrogenase, mitochondrial isoform 2 precursor
NM_001282404.2 NP_001269333.1 malate dehydrogenase, mitochondrial isoform 3
NM_005918.4 NP_005909.2 malate dehydrogenase, mitochondrial isoform 1 precursor

MDH2 Protein Structure

Ldh_1_N

Ldh_1_N: lactate/malate dehydrogenase, NAD binding domain (26 - 168)

Ldh_1_C

Ldh_1_C: lactate/malate dehydrogenase, alpha/beta C-terminal domain (170 - 334)

  • 0
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  • 338 a.a.
Protein Preferred Names Protein Names

malate dehydrogenase, mitochondrial

malate dehydrogenase 2, NAD (mitochondrial)

Recombinant MDH2 Proteins

Cat. No. Product Name Accession Purity
HY-P70350 MDH2 Protein, Human (HEK293, His) P40926 (A25-K338) ≥95%

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 51

DEE51

Epileptic Encephalopathy, Early Infantile, 51

Eiee51

Developmental And Epileptic Encephalopathy, 51

Early Infantile Epileptic Encephalopathy 51
Hereditary Paraganglioma-Pheochromocytoma Syndromes

Hereditary Pheochromocytoma-Paraganglioma

Hereditary Paraganglioma-Pheochromocytoma

Familial Pheochromocytoma-Paraganglioma

Paragangliomas 2

Paragangliomas 3

Paragangliomas 4

Sdhx-Related Paraganglioma-Pheochromocytoma

Familial Paraganglioma Syndrome

Familial Paraganglioma-Pheochromocytoma Syndromes

Fpgl

Fpgl/Pheo

Paragangliomas 1

Paraganglioma
Gastroenteritis

Cholera Morbus

Infectious Colitis, Enteritis And Gastroenteritis

Enteritis Due To Astrovirus

Rotaviral Gastroenteritis

Viral Gastroenteritis Due To Rotavirus
Leishmaniasis

Post-Kala-Azar Dermal Leishmaniasis

Post Kala-Azar Dermal Leishmaniasis

Post-Kala-Azar Dermal Infectious Disease By Leishmaniasis

Cutaneous Leishmaniasis

Kala-Azar

Visceral Leishmaniasis

Leishmaniasis, Cutaneous

Leishmaniasis, Visceral

Leishmania

Leishmania Infection

Leishmaniosis
Paraganglioma

Chemodectoma

Glomus Body Tumor

Paragangliomas

Carotid Body Paraganglioma

Extra-Adrenal Paraganglioma
Persistent Generalized Lymphadenopathy

Pgl

Persistant Generalized Lymphadenopathy
2-Hydroxyglutaric Aciduria

2-Hga

2-Hydroxyglutaric Acidemia

2-Hydroxyglutaricaciduria

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Infantile Cerebellar-Retinal Degeneration

ICRD

Infantile Cerebellar Retinal Degeneration

Degeneration, Cerebellar-Retinal, Infantile
Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

DEE39

Eiee39

Aspartate-Glutamate Carrier 1 Deficiency

Epileptic Encephalopathy With Global Cerebral Demyelination

Developmental And Epileptic Encephalopathy, 39

Early Infantile Epileptic Encephalopathy 39

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Global Cerebral Hypomyelination

Hereditary Central Nervous System Demyelinating Diseases
Pheochromocytoma

Pheochromocytoma, Susceptibility To

Phaeochromocytoma

Adrenal Gland Chromaffin Paraganglioma

Adrenal Gland Chromaffinoma

Adrenal Gland Paraganglioma

Adrenal Gland Pheochromocytoma

Chromaffin Paraganglioma Of The Adrenal Gland

Intraadrenal Paraganglioma

PCC

Chromaffin Cell Tumor

Medullary Chromaffinoma

Medullary Paraganglioma

Pheochromoblastoma

Pheochromocytomas

Chromaffin Cell Neoplasm

Pheochromocytoma, Malignant
L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria
Combined D-2- And L-2-Hydroxyglutaric Aciduria

D,L-2-Hydroxyglutaric Aciduria

D2L2AD

Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

D,L-2-Hga

D,L-2-Hydroxyglutaric Acidemia

Combined D,L-2-Hydroxyglutaric Aciduria
Fumarase Deficiency

Fumaric Aciduria

FMRD

Fumarate Hydratase Deficiency

Deficiency, Fumarase
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Urinary Tract Infection

Urinary Tract Infections

Uti

Urinary Tract Infection Nos

Uti - [Urinary Tract Infection]

Uti Nos - [Urinary Tract Infection Nos]

Urosepsis Nos

E Coli Uti

E Coli Urinary Tract Infection

Escherichia Coli Uti
Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
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-RS08261 MDH2 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta MDH2 VGNC VGNC:74691
Mus musculus MDH2 MGD MGI:97050
Bos taurus MDH2 VGNC VGNC:106817
Rattus norvegicus MDH2 RGD RGD:619719
Felis catus MDH2 VGNC VGNC:68221
Others MDH2 NCBI