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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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