The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy.

Autor: Newbold, Richard J., Deery, Evelyne C., Walker, Caroline E., Wilkie, Susan E., Srinivasan, Narayanaswamy, Hunt, David M., Bhattacharya, Shomi S., Warren, Martin J.
Zdroj: Human Molecular Genetics; Jan2001, Vol. 10 Issue 1, p47, 1p
Abstrakt: Investigates whether proline to leucine mutation at position 50 of human guanylate cyclase activating protein-1 (GCAP1) can cause cone-rod dystrophy. Site-directed mutagenesis; Over-expression of the enzyme in Escherichia coli cells; Calcium-dependency profile of GCAP1; Effect of GCAP1 low cellular concentration on cell death.
Databáze: Complementary Index