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The protein encoded by this gene catalyzes the conversion of L-lactate and NAD to pyruvate and NADH in the final step of anaerobic glycolysis. The protein is found predominantly in muscle tissue and belongs to the lactate dehydrogenase family. Mutations in this gene have been linked to exertional myoglobinuria. Multiple transcript variants encoding different isoforms have been found for this gene. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Sep 2008]
LDHA (Lactate Dehydrogenase A) is a Protein Coding gene. Diseases associated with LDHA include Fanconi-Bickel Syndrome and Myoglobinuria. Among its related pathways are Glucose metabolism and HIF1Alpha Pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and L-lactate dehydrogenase activity. An important paralog of this gene is LDHC.
Lactate Dehydrogenase A (LDHA; LDH5), EC 1.1.1.27, is one of five isoforms of the lactate dehydrogenase family. It catalyzes the conversion of pyruvate to lactate under anaerobic conditions and is key in the altered glycolytic metabolism that is a feature of cancer cells.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004457 | lactate dehydrogenase activity | IEA | -- |
GO:0004459 | L-lactate dehydrogenase activity | TAS,NAS | 1953713 |
GO:0005515 | protein binding | IPI | 21988832 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | HDA | 21630459 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism | ||
2 | Metabolism |
.40
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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 | Glucose / Energy Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001666 | response to hypoxia | IEA | -- |
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006089 | lactate metabolic process | IEA | -- |
GO:0006090 | pyruvate metabolic process | TAS | -- |
GO:0006096 | glycolytic process | NAS | 1953713 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
NADH | Approved | Nutra | Target | 0 | ||
Nicotinamide | Approved, Investigational | Pharma | Target | 427,427 | ||
Stiripentol | Approved | Pharma | Target, inhibitor | An LDH inhibitor | 11 | |
Copper | Approved, Investigational | Pharma | Target | 249 | ||
Pyruvic acid | Approved, Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
2-Hydroxybutyric acid |
|
600-15-7 |
|
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3-Mercaptolactic acid |
|
2614-83-7 |
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|||
3-Mercaptopyruvic acid |
|
2464-23-5 |
|
|||
Hydrogen Ion |
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|
Compound | Action | Cas Number |
---|---|---|
Galloflavin | ||
GSK 2837808A | 1445879-21-9 | |
Isosafrole | A stiripentol analog, a potent LDH inhibitor. | 120-58-1 |
Stiripentol | An LDH inhibitor | 49763-96-4 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LDHA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
LDHA 30 |
|
||||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | LDHA 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | LDHA 31 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Ldha 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | LDHA 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LDHA 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ldha 30 |
|
||
MGC76171 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | ldha-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ldha 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | ImpL3 30 31 32 |
|
ManyToMany | |
CG13334 31 32 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004880 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | ldh-1 30 31 32 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G17260 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0105400 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.10337 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11301 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.3533 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
673425 | Likely Benign: not provided | 18,403,392(+) | G/A | INTRON_VARIANT | |
676251 | Benign: not provided | 18,399,329(+) | T/G | INTRON_VARIANT | |
680917 | Likely Benign: not provided | 18,405,441(+) | T/A | INTRON_VARIANT | |
681419 | Likely Benign: not provided | 18,403,695(+) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
683023 | Benign: not provided | 18,397,172(+) | C/T | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
fanconi-bickel syndrome |
|
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myoglobinuria |
|
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lactate dehydrogenase deficiency |
|
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glycogen storage disease |
|
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leiomyomatosis |
|
|