LDHA gene

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:LDH-M
GSD11
LDH muscle
gptkbp:alternativeName gptkb:LDH-A
gptkb:LDH_muscle_subunit
GSD11
gptkbp:associatedWith gptkb:LDHA_deficiency
glycogen storage disease XI
gptkbp:biologicalProcess response to hypoxia
carbohydrate metabolic process
lactate dehydrogenase activity
gptkbp:clinicalTrialPhase LDH isoenzyme analysis
gptkbp:discoveredBy biochemical studies
gptkbp:encodes gptkb:lactate_dehydrogenase_A
gptkbp:Entrez_Gene_ID gptkb:ENSG00000134333
3939
gptkbp:expressedIn gptkb:skeletal_muscle
gptkb:kidney
gptkb:testis
liver
gptkbp:firstDescribed 1960s
gptkbp:fullName lactate dehydrogenase A gene
gptkbp:function catalyzes conversion of pyruvate to lactate
involved in anaerobic glycolysis
gptkbp:geneType protein-coding
gptkbp:hasTranscriptVariant multiple
gptkbp:HGNC_ID HGNC:6541
https://www.w3.org/2000/01/rdf-schema#label LDHA gene
gptkbp:length 7 exons
gptkbp:locatedOnChromosome chromosome 11
11p15.4
gptkbp:mutationAssociatedWith causes exertional myoglobinuria
causes hemolytic anemia
gptkbp:OMIM 150000
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologIn mouse Ldha gene
rat Ldha gene
gptkbp:pathway gptkb:pyruvate_metabolism
glycolysis
gptkbp:product tetramer
NP_005557
homotetramer or heterotetramer with LDHB
gptkbp:proteinFamily gptkb:lactate/malate_dehydrogenase_family
gptkbp:referenceGenome NM_005566
gptkbp:regulates regulated by HIF-1
upregulated in hypoxia
gptkbp:subcellularLocation gptkb:cytoplasm
gptkbp:UniProtID gptkb:P00338
gptkbp:bfsParent gptkb:LDH-A
gptkbp:bfsLayer 7