Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
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ABSTRACT:
SUBMITTER: Kohl S
PROVIDER: S-EPMC379175 | biostudies-literature | 2002 Aug
REPOSITORIES: biostudies-literature
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Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
Kohl Susanne S Baumann Britta B Rosenberg Thomas T Kellner Ulrich U Lorenz Birgit B Vadalà Maria M Jacobson Samuel G SG Wissinger Bernd B
American journal of human genetics 20020620 2
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 demo ...[more]
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