8d1k

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 Also

• Bestrophin 3D structures

References

1. ↑ Sun H, Tsunenari T, Yau KW, Nathans J. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002 Mar 19;99(6):4008-13. doi: 10.1073/pnas.052692999. PMID:11904445 doi:http://dx.doi.org/10.1073/pnas.052692999
2. ↑ Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J. Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003 Oct 17;278(42):41114-25. doi: 10.1074/jbc.M306150200. Epub 2003, Aug 7. PMID:12907679 doi:http://dx.doi.org/10.1074/jbc.M306150200
3. ↑ Qu Z, Hartzell HC. Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol. 2008 Jun;294(6):C1371-7. doi:, 10.1152/ajpcell.00398.2007. Epub 2008 Apr 9. PMID:18400985 doi:http://dx.doi.org/10.1152/ajpcell.00398.2007