ENSG00000134333
Homo sapiens | |
Features
| Gene ID: | ENSG00000134333 | | | | | Biological name : | LDHA | | | | | Synonyms : | lactate dehydrogenase A / LDHA / P00338 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 11 | | Strand: | 1 | | Band: | p15.1 | | Gene start: | 18394388 | | Gene end: | 18408425 | | | | | Corresponding Affymetrix probe sets: | 200650_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000486249
Ensembl peptide - ENSP00000445331
Ensembl peptide - ENSP00000446415
Ensembl peptide - ENSP00000227157
Ensembl peptide - ENSP00000368722
Ensembl peptide - ENSP00000379524
Ensembl peptide - ENSP00000395337
Ensembl peptide - ENSP00000406172
Ensembl peptide - ENSP00000440161
Ensembl peptide - ENSP00000440368
Ensembl peptide - ENSP00000441058
Ensembl peptide - ENSP00000441241
Ensembl peptide - ENSP00000441699
Ensembl peptide - ENSP00000442637
Ensembl peptide - ENSP00000442979
Ensembl peptide - ENSP00000443362
Ensembl peptide - ENSP00000443545
Ensembl peptide - ENSP00000444292
Ensembl peptide - ENSP00000445175
NCBI entrez gene - 3939
See in Manteia.
OMIM - 150000
RefSeq - NM_001165414
RefSeq - NM_005566
RefSeq - NM_001165416
RefSeq - NM_001165415
RefSeq - NM_001135239
RefSeq Peptide - NP_001158886
RefSeq Peptide - NP_001128711
RefSeq Peptide - NP_001158887
RefSeq Peptide - NP_001158888
RefSeq Peptide - NP_005557
swissprot - F5GYU2
swissprot - F5GXY2
swissprot - F5GXU1
swissprot - F5GXH2
swissprot - F5GXC7
swissprot - P00338
swissprot - F5GWW2
swissprot - V9HWB9
swissprot - F5GZQ4
swissprot - F5H5J4
swissprot - F5H6W8
swissprot - F5H8H6
Ensembl - ENSG00000134333
| | | | | Related genetic diseases (OMIM): | 612933 - Glycogen storage disease XI, 612933 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR001236 | Lactate/malate dehydrogenase, N-terminal | | IPR001557 | L-lactate/malate dehydrogenase | | IPR011304 | L-lactate dehydrogenase | | IPR015955 | Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal | | IPR018177 | L-lactate dehydrogenase, active site | | IPR022383 | Lactate/malate dehydrogenase, C-terminal | | IPR036291 | NAD(P)-binding domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000083 | Renal failure | |
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| | HP:0002063 | Rigidity | |
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| | HP:0002151 | Increased serum lactate | "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] |
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| | HP:0002913 | Myoglobinuria | |
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| | HP:0003201 | Rhabdomyolysis | |
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| | HP:0003236 | Elevated serum creatine phosphokinase | |
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| | HP:0003326 | Myalgia | "A tendency to experience muscle pain." [HPO:curators] |
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| | HP:0003394 | Muscle cramps | |
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| | HP:0003542 | Increased serum pyruvate | "An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle." [HPO:curators] |
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| | HP:0003546 | Exercise intolerance | |
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| | HP:0003552 | Muscle stiffness | |
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| | HP:0003621 | Juvenile onset | |
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Interacting proteins (from Reactome)
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