Portal de Periódicos da CAPES

The Gene Causing the Best's Macular Dystrophy (BMD) Encodes a Putative Ion Exchanger

2001; Taylor & Francis; Volume: 12; Issue: 5-6 Linguagem: Inglês

10.3109/10425170109084470

1042-5179

Antonio Gómez, Juan Cedano, Baldomero Oliva, Jaume Piñol, Enrique Querol,

bioluminescence and chemiluminescence research

Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2, is an autosomal dominant disease that causes loss of vision. The causative gene encodes a 585 amino acids protein called bestrophin with unknown function. From bioinformatics analysis, a putative ion exchanger function for bestrophin can be suggested.