abnormal circulating carnitine level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant concentration in the blood of carnitine, a quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane (Mammalian Phenotype Ontology, MP_0003977)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003977
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Genes

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

Symbol Name
ACADL acyl-CoA dehydrogenase, long chain
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADVL acyl-CoA dehydrogenase, very long chain
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
MUT methylmalonyl CoA mutase
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
TMEM27 transmembrane protein 27