Article
Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
Molecular pharmacology - 1 Nov 2006
Urban Thomas J, Gallagher Renata C, Brown Chaline, Castro Richard A, Lagpacan Leah L, Brett Claire M, Taylor Travis R, Carlson Elaine J, Ferrin Thomas E, Burchard Esteban G, Packman Seymour, Giacomini Kathleen M
Abstract excerpt
Systemic carnitine deficiency (SCD) is a rare autosomal recessive disease resulting from defects in the OCTN2 (SLC22A5) gene, which encodes the high-affinity plasma membrane carnitine transporter. Although OCTN2 is fairly well studied in its relationship with SCD, little is known about the carrier frequency of disease-causing alleles of OCTN2, or of more common functional polymorphisms in this gene. To address...
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