The gene causing the Best's macular dystrophy (BMD) encodes a putative ion exchanger.
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.
Gómez
A
A
Departament de Bioquímica i Biologia Molecular, Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.
Cedano
J
J
Oliva
B
B
Piñol
J
J
Querol
E
E
D000075002:Bestrophins; D018118:Chloride Channels; D019295:Computational Biology; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007474:Ion Exchange; D016623:Ion Pumps / Q000235:genetics*; D008268:Macular Degeneration / Q000235:genetics*
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D016623:Ion Pumps