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    Genomics. 1996 Sep 15;36(3):424-30.

    Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene.

    Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U.

    Source

    Ludwig Institute for Cancer Research, Stockholm Branch, Sweden.

    Abstract

    The universal chromophore of visual pigments in higher animals is 11-cis retinaldehyde. The final step in the biosynthetic pathway generating this compound is catalyzed by 11-cis retinol dehydrogenase, a membrane-bound enzyme abundantly expressed in the retinal pigment epithelium of the eye. In this work we demonstrate that the primary structure of human 11-cis retinol dehydrogenase is highly conserved with 91% identity to the bovine enzyme. The gene encoding 11-cis retinol dehydrogenase spans over approximately 4.1 kb of DNA and is divided into four translated exons. Analysis of a panel of somatic cells hybrids and fluorescence in situ hybridization on metaphase chromosomes revealed that the gene is located on chromosome 12q13-q14. Due to the unique role of 11-cis retinol dehydrogenase in the generation of visual pigments, it is a candidate gene for involvement in hereditary eye disease.

    PMID:
    8884265
    [PubMed - indexed for MEDLINE]

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