8d1m | pdb_00008d1m
From Proteopedia
Structural highlights
Disease[BEST1_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. Function[BEST1_HUMAN] Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.[1] [2] [3] See AlsoReferences
| ||||||||||||||||
This page was last modified 05:59, 8 September 2022.