Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.

Autor: Billuart, Pierre, Bienvenu, Thierry, Ronce, Nathalie, des Portes, Vincent, Vinet, Marie Claude, Zemni, Ramzi, Crollius, Hughes Roest, Carrié, Alain, Fauchereau, Fabien, Cherry, Michele, Briault, Sylvain, Hamel, Ben, Fryns, Jean-Pierre, Beldjord, Cherif, Kahn, Axel, Moraine, Claude, Chelly, Jamel
Předmět:
Zdroj: Nature; 4/30/1998, Vol. 392 Issue 6679, p923, 4p, 11 Black and White Photographs, 5 Diagrams, 1 Chart, 2 Graphs
Abstrakt: Presents research which reported a new gene and different mutations predicted to cause a loss of function related to mental retardation. What primary or nonspecific X-linked mental retardation (MRX) is; Location of gene; Expression of gene and its encoding of protein oligophrenin-1; Role of GAP and rhoGAP proteins; Implications of research.
Databáze: Complementary Index