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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

ASSOCIATED DISORDERS

corresponding disease(s)

CDSP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation deletion   loss of function - constitutional somatic mutation insertion   loss of function -

Susceptibility

to Crohn disease(see IBD5)

Variant & Polymorphism other	G>C transversion in the promoter increasing the susceptibility to Crohn disease

Candidate gene

Marker

Therapy target

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