decreased circulating carnitine level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description lower 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_0003978)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003978
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Genes

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

Symbol Name
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
TMEM27 transmembrane protein 27