Kohl, Susanne and Baumann, Britta and Rosenberg, Thomas and Kellner, Ulrich and Lorenz, Birgit and Vadala, Maria and Jacobson, Samuel G. and Wissinger, Bernd (2002) Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. AMERICAN JOURNAL OF HUMAN GENETICS, 71 (2). pp. 422-425. ISSN 0002-9297
Full text not available from this repository. (Request a copy)Abstract
Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor-specific alpha-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | TOTAL COLOURBLINDNESS; ROD TRANSDUCIN; DISEASE; CHANNEL; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 11 Oct 2021 08:52 |
| Last Modified: | 11 Oct 2021 08:52 |
| URI: | https://pred.uni-regensburg.de/id/eprint/39991 |
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