6533b825fe1ef96bd1283425
RESEARCH PRODUCT
Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance
Pertti AulaOlli SimellAarno PalotieTuija LautealaJames M. CunninghamNina Horelli-kuitunenEllen I. ClossMarja-liisa SavontausMari Lukkarinensubject
Genetic LinkageBiologyGene mappingGenetic linkageComplementary DNAGeneticsmedicineHumansAmino acid transporterAmino Acid Metabolism Inborn ErrorsGeneGenetics (clinical)chemistry.chemical_classificationLysineChromosome MappingMembrane Proteinsmedicine.diseaseLysinuric protein intoleranceAmino acidchemistryBiochemistryAmino Acid Transport Systems BasicEffluxCarrier ProteinsChromosomes Human Pair 8Microsatellite Repeatsdescription
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 the 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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1997-06-19 | Human Genetics |