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Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance

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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 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.

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Authors and Affiliations

  1. Department of Medical Genetics, University of Turku, Kiinamyllynkatu 10, SF-20520 Turku, Finland Fax: +358-2-3337300, , , , , , FI

    T. Lauteala, Marja-Liisa Savontaus & Pertti Aula

  2. Department of Pediatrics, University of Turku, Turku, Finland, , , , , , FI

    Mari Lukkarinen & Olli Simell

  3. Laboratory of Molecular Genetics, Helsinki University Central Hospital, Helsinki, Finland, , , , , , FI

    Nina Horelli-Kuitunen & Aarno Palotie

  4. Department of Pharmacology, Johannes Gutenberg University, Mainz, Germany, , , , , , DE

    Ellen Closs

  5. Howard Hughes Medical Institute and Division of Hematology, Brigham and Womens Hospital and Harvard Medical School, Boston, Massachusetts, USA, , , , , , US

    James Cunningham

Authors
  1. T. Lauteala
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  2. Nina Horelli-Kuitunen
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  3. Ellen Closs
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  4. Marja-Liisa Savontaus
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  5. Mari Lukkarinen
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  6. Olli Simell
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  7. James Cunningham
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  8. Aarno Palotie
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  9. Pertti Aula
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Received: 28 October 1996 / Accepted: 20 January 1997

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Lauteala, T., Horelli-Kuitunen, N., Closs, E. et al. Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance. Hum Genet 100, 80–83 (1997). https://doi.org/10.1007/s004390050469

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  • DOI: https://doi.org/10.1007/s004390050469

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