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Gene Review:

GNGT2 - guanine nucleotide binding protein (G...

Homo sapiens

Synonyms: G gamma-C, G-GAMMA-8, G-GAMMA-C, G-gamma-8, G-gamma-9, ...

Ong, O.C. et al., Gao, Y.Q. et al., Mohlke, K.L. et al.

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Disease relevance of GNGT2

CONCLUSIONS: The results indicate that GNB3 and GNGT2 are unlikely sites of mutations responsible for inherited retinal degenerations that predominantly effect cone-mediated function (cone and cone-rod dystrophies) or have a predilection for disease in the macula (macular dystrophies) [1].

High impact information on GNGT2

Six genes localized to the Mvwf nonrecombinant interval by comparative mapping included orthologs of GNGT2, ATP6N1, and a nuclear domain protein [2].
Nucleotide sequence analysis of the G gamma c gene (GNGT2) reveals a structure consisting of three exons and two introns, with the intron splice sites similar to that of the rod G gamma 1 gene (GNGT1) [3].
By using fluorescence in situ hybridization, we have further localized the human GNGT2 gene to chromosome 17q21 [3].
Gene structure and chromosome localization of the G gamma c subunit of human cone G-protein (GNGT2) [3].

References

Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease. Gao, Y.Q., Danciger, M., Akhmedov, N.B., Zhao, D.Y., Heckenlively, J.R., Fishman, G.A., Weleber, R.G., Jacobson, S.G., Farber, D.B. Mol. Vis. (1998) [Pubmed]
Comparative mapping of distal murine chromosome 11 and human 17q21.3 in a region containing a modifying locus for murine plasma von Willebrand factor level. Mohlke, K.L., Purkayastha, A.A., Westrick, R.J., Ginsburg, D. Genomics (1998) [Pubmed]
Gene structure and chromosome localization of the G gamma c subunit of human cone G-protein (GNGT2). Ong, O.C., Hu, K., Rong, H., Lee, R.H., Fung, B.K. Genomics (1997) [Pubmed]

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