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This gene encodes the B subunit of lactate dehydrogenase enzyme, which catalyzes the interconversion of pyruvate and lactate with concomitant interconversion of NADH and NAD+ in a post-glycolysis process. Alternatively spliced transcript variants have been found for this gene. Recent studies have shown 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. Mutations in this gene are associated with lactate dehydrogenase B deficiency. Pseudogenes have been identified on chromosomes X, 5 and 13. [provided by RefSeq, Feb 2016]
LDHB (Lactate Dehydrogenase B) is a Protein Coding gene. Diseases associated with LDHB include Lactate Dehydrogenase B Deficiency and Triosephosphate Isomerase Deficiency. Among its related pathways are Glucose metabolism and Pyruvate metabolism and Citric Acid (TCA) cycle. Gene Ontology (GO) annotations related to this gene include identical protein binding and kinase binding. An important paralog of this gene is ENSG00000285854.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004459 | L-lactate dehydrogenase activity | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 21044950 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0016616 | oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,TAS | 16130169 |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
GO:0045121 | membrane raft | IDA | 25204797 |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism | ||
2 | Metabolism |
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3 | Metabolic States and Circadian Oscillators |
Metabolic States and Circadian Oscillators
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4 | Pyruvate metabolism and Citric Acid (TCA) cycle | ||
5 | Central carbon metabolism in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006090 | pyruvate metabolic process | TAS | -- |
GO:0019752 | carboxylic acid metabolic process | IEA | -- |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
Stiripentol | Approved | Pharma | Target, inhibitor | An LDH inhibitor | 11 | |
Pyruvic acid | Approved, Investigational | Nutra | 0 | |||
4-Hydroxy-1,2,5-oxadiazole-3-carboxylic acid | Experimental | Pharma | Target | 0 | ||
Dihydroartemisinin | Experimental, Investigational | Pharma | Target, ligand | 115 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2-Hydroxybutyric acid |
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600-15-7 |
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|||
3-Mercaptolactic acid |
|
2614-83-7 |
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3-Mercaptopyruvic acid |
|
2464-23-5 |
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Hydrogen Ion |
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|
Compound | Action | Cas Number |
---|---|---|
Isosafrole | A stiripentol analog, a potent LDH inhibitor. | 120-58-1 |
Stiripentol | An LDH inhibitor | 49763-96-4 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||
SP4: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LDHB 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LDHB 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
LDHB 30 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | LDHB 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ldhb 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ldhb 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | LDHB 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LDHB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | LDHB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ldhb 30 |
|
||
MGC75741 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | ldha-B 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ldhba 30 31 |
|
OneToMany | |
ldhbb 31 |
|
OneToMany | |||
ldhb 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3984 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | ImpL3 31 32 |
|
ManyToMany | |
CG13334 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ldh-1 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11301 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
725612 | Benign: not provided | 21,642,112(-) | C/T | SYNONYMOUS_VARIANT | |
745038 | Likely Benign: not provided | 21,637,182(-) | G/A | SYNONYMOUS_VARIANT | |
880881 | Uncertain Significance: Lactate dehydrogenase B deficiency | 21,637,082(-) | T/C | MISSENSE_VARIANT | |
880882 | Uncertain Significance: Lactate dehydrogenase B deficiency | 21,637,126(-) | A/G | MISSENSE_VARIANT | |
880883 | Uncertain Significance: Lactate dehydrogenase B deficiency | 21,637,141(-) | C/T | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
lactate dehydrogenase b deficiency |
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triosephosphate isomerase deficiency |
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parkinson disease 17 |
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alzheimer disease 13 |
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paranasal sinus cancer |
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