increased circulating carnitine level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description greater than normal blood concentration of this quaternary ammonium amino acid derivative involved in transport of fatty acids across the mitochondrial membrane (Mammalian Phenotype Ontology, MP_0003979)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003979
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Genes

6 gene mutations causing the increased 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
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)