8d1k
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proteopedia linkproteopedia linkhBest1 Ca2+-bound partially open neck state
Structural highlights
DiseaseBEST1_HUMAN Nanophthalmos;Adult-onset foveomacular vitelliform dystrophy;Best vitelliform macular dystrophy;MRCS syndrome;Autosomal recessive bestrophinopathy;Autosomal dominant vitreoretinochoroidopathy;Retinitis pigmentosa. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. FunctionBEST1_HUMAN Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.[1] [2] [3] See AlsoReferences
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