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FLASH GENE
Symbol SLC22A5 contributors: mct/shn - updated : 17-06-2010
HGNC name solute carrier family 22 (organic cation/carnitine transporter), member 5
HGNC id 10969
ANIMAL & CELL MODELS
  • a missense mutation in the gene in jvs mice abrogated carnitine transport
  • Octn2 -/- mice developed enlarged fatty liver, steatosis of other organs, and hypertrophic cardiomyopathy, intestinal villous atrophy and intestinal breakdown and inflammation with intense lymphocyte and macrophage infiltration, leading to ulcer formation and gut perforation