导致最佳黄斑营养不良(BMD)的基因编码一个假定的离子交换器

DNA Sequence Pub Date : 2001-01-01 DOI:10.3109/10425170109084470

A. Gómez, J. Cedano, B. Oliva, J. Piñol, E. Querol

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引用次数: 8

摘要

Best’s macular dystrophy (BMD)，又称黄斑变性2型，是一种常染色体显性遗传病，可导致视力丧失。致病基因编码一种由585个氨基酸组成的蛋白质，名为strophin，功能未知。从生物信息学的角度分析，可以推测出strophin的离子交换功能。

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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.

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DNA Sequence

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