title: Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance.
abstract: Lysinuric protein intolerance (LPI) is a recessively inherited amino acid disorder characterized by defective efflux of cationic amino acids at the basolateral membrane of the intestinal and renal tubular epithelium. Recently, cDNAs encoding the related proteins hCAT-2A and hCAT-2B have been cloned. These two carrier proteins are most likely to product of the same gene, hCAT-2. Using the hCAT-2B cDNA, we assigned the hCAT-2 gene to chromosome 8p22. Furthermore, by linkage analysis in Finnish LPI families, we ruled out that hCAT-2B is involved in LPI disease.
authors.affiliation: Department of Medical Genetics, University of Turku, Finland.
authors.forename: T
authors.initials: T
authors.lastname: Lauteala
authors.forename: N
authors.initials: N
authors.lastname: Horelli-Kuitunen
authors.forename: E
authors.initials: E
authors.lastname: Closs
authors.forename: M I
authors.initials: MI
authors.lastname: Savontaus
authors.forename: M
authors.initials: M
authors.lastname: Lukkarinen
authors.forename: O
authors.initials: O
authors.lastname: Simell
authors.forename: J
authors.initials: J
authors.lastname: Cunningham
authors.forename: A
authors.initials: A
authors.lastname: Palotie
authors.forename: P
authors.initials: P
authors.lastname: Aula
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008239:Lysine / Q000652:urine*; D008565:Membrane Proteins / Q000235:genetics*; D018895:Microsatellite Repeats
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D008565:Membrane Proteins; D008239:Lysine