MDH2
entrez
4191
canonical
uniprot
P40926
canonical
ensembl
ENSG00000146701
resolver
ensp
ENSP00000327070
resolver
ensp
ENSP00000408649
resolver
ensp
ENSP00000416929
resolver
enst
ENST00000443006
resolver
genesymbol
MDH2
resolver
hgnc
HGNC:6971
resolver
uniprot
A0A024R4K3
resolver
uniprot
A8K414
resolver
uniprot
B2RE78
resolver
uniprot
B3KTM1
resolver
uniprot
B4DE44
resolver
uniprot
E9PDB2
resolver
uniprot
G3XAL0
resolver
uniprot
O43682
resolver
uniprot_entry
A0A024R4K3_HUMAN
resolver
uniprot_entry
B3KTM1_HUMAN
resolver
uniprot_entry
G3XAL0_HUMAN
resolver
uniprot_entry
MDHM_HUMAN
resolver
uniprot_sec
A8K414
resolver
uniprot_sec
B2RE78
resolver
uniprot_sec
B4DE44
resolver
uniprot_sec
E9PDB2
resolver
uniprot_sec
O43682
resolver
activity_regulation
ACTIVITY REGULATION: Enzyme activity is enhanced by acetylation. {ECO:0000269|PubMed:20167786}.
uniprot
proteins
amino_acid_sequence
MLSALARPASAALRRSFSTSAQNNAKVAVLGASGGIGQPLSLLLKNSPLVSRLTLYDIAHTPGVAADLSHIETKAAVKGYLGPEQLPDCLKGCDVVVIPAGVPRKPGMTRDDLFNTNATIVATLTAACAQHCPEAMICVIANPVNSTIPITAEVFKKHGVYNPNKIFGVTTLDIVRANTFVAELKGLDPARVNVPVIGGHAGKTIIPLISQCTPKVDFPQDQLTALTGRIQEAGTEVVKAKAGAGSATLSMAYAGARFVFSLVDAMNGKEGVVECSFVKSQETECTYFSTPLLLGKKGIEKNLGIGKVSSFEEKMISDAIPELKASIKKGEDFVKTLK
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 51 (DEE51) [MIM:617339]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE51 is an autosomal recessive form characterized by onset of intractable seizures and hypotonia in the first days or weeks of life, and severely delayed psychomotor development. {ECO:0000269|PubMed:27989324}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.1.37
uniprot
proteins
function
FUNCTION: Mitochondrial malate dehydrogenase that catalyzes the reversible conversion of malate to oxaloacetate using NAD(+) as a cofactor (PubMed:27989324). Plays a central role in the tricarboxylic acid (TCA) cycle contributing to cellular respiration and energy production via the mitochondrial electron transport chain (PubMed:35366151). Also participates in the malate-aspartate NADH shuttle, facilitating transfer of reducing equivalents between cytosol and mitochondria to maintain redox balance (NAD(+)/NADH homeostasis) and support metabolic flux between compartments (By similarity). In addition to its metabolic role, binds to RNA in cells, associating with cytosolic RNAs including tRNAs and mRNAs (PubMed:38609156). {ECO:0000250|UniProtKB:P08249, ECO:0000269|PubMed:27989324, ECO:0000269|PubMed:35366151, ECO:0000269|PubMed:38609156, ECO:0000269|PubMed:39738099}.
uniprot
proteins
mass_dalton
35503
uniprot
proteins
mutagenesis
MUTAGEN 185; /note="K->R: No activation of enzyme activity on treatment with TSA or NAM; when associated with R-301; R-307 and R-314."; /evidence="ECO:0000269|PubMed:20167786"; MUTAGEN 301; /note="K->R: No activation of enzyme activity on treatment with TSA or NAM; when associated with R-185; R-307 and R-314."; /evidence="ECO:0000269|PubMed:20167786"; MUTAGEN 307; /note="K->R: No activation of enzyme activity on treatment with TSA or NAM; when associated with R-185; R-301 and R-314."; /evidence="ECO:0000269|PubMed:20167786"; MUTAGEN 314; /note="K->R: No activation of enzyme activity on treatment with TSA or NAM; when associated with R-185; R-301 and R-307."; /evidence="ECO:0000269|PubMed:20167786
uniprot
proteins
post_translational_modification
PTM: Acetylation is enhanced by up to 67% after treatment either with trichostin A (TSA) or with nicotinamide (NAM) with the appearance of tri- and tetraacetylations. Glucose also increases acetylation by about 60%. {ECO:0000269|PubMed:20167786}.; PTM: Palmitoylated at Cys-138 by ZDHHC18; palmitoylation increases MDH2 activity and modulates mitochondrial respiration. {ECO:0000269|PubMed:35366151}.; PTM: Deacetylation by SIRT3 leads to decreased enzymatic activity and promotes mitochondrial fusion. {ECO:0000250|UniProtKB:P08249}.
uniprot
proteins
protein_family
LDH/MDH superfamily
uniprot
proteins
protein_family
MDH type 1 family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20167786
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21908771
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27989324
uniprot
proteins
pubmed
35366151
uniprot
proteins
pubmed
38609156
uniprot
proteins
pubmed
39738099
uniprot
proteins
sequence_length
338
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:38609156}.
uniprot
proteins