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The gene causing the Best's macular dystrophy (BMD) encodes a putative ion exchanger
1Departament de Bioquímica i Biologia Molecular, Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, Spain.
DNA Sequence : the Journal of DNA Sequencing and Mapping
|March 27, 2002
Abstract:
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.