abnormal circulating lactate level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly of the amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase (Mammalian Phenotype Ontology, MP_0013403)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0013403
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Genes

16 gene mutations causing the abnormal circulating lactate level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
CEBPD CCAAT/enhancer binding protein (C/EBP), delta
COX1
ESRRG estrogen-related receptor gamma
ETHE1 ethylmalonic encephalopathy 1
KLF15 Kruppel-like factor 15
OXCT1 3-oxoacid CoA transferase 1
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDK4 pyruvate dehydrogenase kinase, isozyme 4
PFKM phosphofructokinase, muscle
SCG5 secretogranin V
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SOD2 superoxide dismutase 2, mitochondrial
TXNIP thioredoxin interacting protein
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
Funding