1. Gene
  2. MDH1 - malate dehydrogenase 1 Gene

MDH1 - malate dehydrogenase 1 Gene

Homo sapiens

Also known as KAR; MDHA; MOR2; DEE88; MDH-s; EIEE88; HEL-S-32; MGC:1375

Gene ID: 4190 | Gene type: protein coding

About MDH1

Cytogenetic location: 2p15 Genomic coordinates (GRCh38): 2:63,588,963-63,607,197 (from NCBI)

This gene has 16 transcripts (splice variants), 301 orthologues, 1 paralogue and is associated with 1 phenotype. Broad expression in heart (RPKM 313.6), fat (RPKM 131.4) and 24 other tissues.

Summary

This gene encodes an Enzyme that catalyzes the NAD/NADH-dependent, reversible oxidation of malate to oxaloacetate in many metabolic pathways, including the citric acid cycle. Two main isozymes are known to exist in eukaryotic cells: one is found in the mitochondrial matrix and the other in the cytoplasm. This gene encodes the cytosolic isozyme, which plays a key role in the malate-aspartate shuttle that allows malate to pass through the mitochondrial membrane to be transformed into oxaloacetate for further cellular processes. Alternatively spliced transcript variants have been found for this gene. A recent study showed that a C-terminally extended isoform is produced by use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism, and that this isoform is localized in the peroxisomes. Pseudogenes have been identified on chromosomes X and 6. [provided by RefSeq, Feb 2016]

MDH1 Products(4)

mRNA Protein Name
NM_001199111.2 NP_001186040.1 malate dehydrogenase, cytoplasmic isoform 2
NM_001199112.2 NP_001186041.1 malate dehydrogenase, cytoplasmic isoform 3
NM_001316374.2 NP_001303303.1 malate dehydrogenase, peroxisomal isoform MDH1x
NM_005917.4 NP_005908.1 malate dehydrogenase, cytoplasmic isoform MDH1

MDH1 Protein Structure

Ldh_1_N

Ldh_1_N: lactate/malate dehydrogenase, NAD binding domain (6 - 152)

Ldh_1_C

Ldh_1_C: lactate/malate dehydrogenase, alpha/beta C-terminal domain (156 - 330)

  • 0
  • 100
  • 200
  • 300
  • 334 a.a.
Protein Preferred Names Protein Names

malate dehydrogenase, cytoplasmic

malate dehydrogenase, peroxisomal

aromatic alpha-keto acid reductase

Recombinant MDH1 Proteins

Cat. No. Product Name Accession Purity
HY-P70349 MDH1 Protein, Human (His) P40925-1 (S2-A334) ≥95%

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 88

DEE88

Epileptic Encephalopathy, Early Infantile, 88

Eiee88

Early Infantile Epileptic Encephalopathy 88

Developmental And Epileptic Encephalopathy, 88

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

Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency

IMD24

Scid Due To Ctps1 Deficiency

Immunodeficiency, Type 24

Pancreatic Cancer

Pancreatic Carcinoma

Carcinoma Of Pancreas

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Cancer Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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

Orthologs Information

Species Symbol Source ID
Mus musculus MDH1 MGD MGI:97051
Canis familiaris MDH1 VGNC VGNC:43103
Felis catus MDH1 VGNC VGNC:68220
Macaca mulatta MDH1 VGNC VGNC:74690
Rattus norvegicus MDH1 RGD RGD:3072
Bos taurus MDH1 VGNC VGNC:31333
Others MDH1 NCBI