| First Author | Simon A | Year | 1996 |
| Journal | Genomics | Volume | 36 |
| Issue | 3 | Pages | 424-30 |
| PubMed ID | 8884265 | Mgi Jnum | J:35832 |
| Mgi Id | MGI:83276 | Doi | 10.1006/geno.1996.0487 |
| Citation | Simon A, et al. (1996) Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. Genomics 36(3):424-30 |
| abstractText | 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. |
