Gene Review:
GNAT2 - guanine nucleotide binding protein (G...
Homo sapiens
Synonyms:
ACHM4, GNATC, Guanine nucleotide-binding protein G(t) subunit alpha-2, Transducin alpha-2 chain
Kohl,
Varsanyi,
Antunes,
Baumann,
Hoyng,
Jägle,
Rosenberg,
Kellner,
Lorenz,
Salati,
Jurklies,
Farkas,
Andreasson,
Weleber,
Jacobson,
Rudolph,
Castellan,
Dollfus,
Legius,
Anastasi,
Bitoun,
Lev,
Sieving,
Munier,
Zrenner,
Sharpe,
Cremers,
Wissinger,
Toledo,
Baron,
Fernandez,
Lachagès,
Mayau,
Buttin,
Debatisse,
Rosenberg,
Baumann,
Kohl,
Zrenner,
Jorgensen,
Wissinger,
- Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2). Morris, T.A., Fong, S.L. Genomics (1993)
- Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Kohl, S., Baumann, B., Rosenberg, T., Kellner, U., Lorenz, B., Vadalà, M., Jacobson, S.G., Wissinger, B. Am. J. Hum. Genet. (2002)
- Detection of cone alpha transducin mRNA in human fetal cochlea: negative mutation analysis in Usher syndrome. Magovcevic, I., Berson, E.L., Morton, C.C. Hear. Res. (1996)
- Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human. Blatt, C., Eversole-Cire, P., Cohn, V.H., Zollman, S., Fournier, R.E., Mohandas, L.T., Nesbitt, M., Lugo, T., Jones, D.T., Reed, R.R. Proc. Natl. Acad. Sci. U.S.A. (1988)
- oriGNAI3: a narrow zone of preferential replication initiation in mammalian cells identified by 2D gel and competitive PCR replicon mapping techniques. Toledo, F., Baron, B., Fernandez, M.A., Lachagès, A.M., Mayau, V., Buttin, G., Debatisse, M. Nucleic Acids Res. (1998)
- Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in gnat2. Chang, B., Dacey, M.S., Hawes, N.L., Hitchcock, P.F., Milam, A.H., Atmaca-Sonmez, P., Nusinowitz, S., Heckenlively, J.R. Invest. Ophthalmol. Vis. Sci. (2006)
- Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Rosenberg, T., Baumann, B., Kohl, S., Zrenner, E., Jorgensen, A.L., Wissinger, B. Invest. Ophthalmol. Vis. Sci. (2004)
- Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease. Gerber, S., Rozet, J.M., Bonneau, D., Souied, E., Weissenbach, J., Frezal, J., Munnich, A., Kaplan, J. Hum. Genet. (1995)
- A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene. Piña, A.L., Baumert, U., Loyer, M., Koenekoop, R.K. Mol. Vis. (2004)
- CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Kohl, S., Varsanyi, B., Antunes, G.A., Baumann, B., Hoyng, C.B., Jägle, H., Rosenberg, T., Kellner, U., Lorenz, B., Salati, R., Jurklies, B., Farkas, A., Andreasson, S., Weleber, R.G., Jacobson, S.G., Rudolph, G., Castellan, C., Dollfus, H., Legius, E., Anastasi, M., Bitoun, P., Lev, D., Sieving, P.A., Munier, F.L., Zrenner, E., Sharpe, L.T., Cremers, F.P., Wissinger, B. Eur. J. Hum. Genet. (2005)
- G protein coupling profile of mGluR6 and expression of G[alpha] proteins in retinal ON bipolar cells. Tian, L., Kammermeier, P.J. Vis. Neurosci. (2006)
- Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease. Magovcevic, I., Weremowicz, S., Morton, C.C., Fong, S.L., Berson, E.L., Dryja, T.P. Genomics (1995)
- DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR. Rozet, J.M., Gerber, S., Bonneau, D., Munnich, A., Kaplan, J. Hum. Mol. Genet. (1994)
- Retinal degeneration in cone photoreceptor cell-ablated transgenic mice. Ying, S., Jansen, H.T., Lehman, M.N., Fong, S.L., Kao, W.W. Mol. Vis. (2000)