BESTs transport cytosolic Cl- to extracellular region

Stable Identifier
Reaction [transition]
Homo sapiens
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Bestrophins 1-4 (BEST1-4, aka vitelliform macular dystrophy proteins) mediate cytosolic Cl- efflux across plasma membranes. This transport is sensitive to intracellular Ca2+ concentrations (Sun et al. 2002, Tsunenari et al. 2003). Mutations in bestrophins that impair their function are implicated in macular degeneration in the eye. Defects in BEST1 cause vitelliform macular dystrophy (BVMD, Best's disease, MIM:153700), an autosomal dominant form of macular degeneration that usually begins in childhood and is characterized lesions due to abnormal accumulation of lipofuscin within and beneath retinal pigment epithelium (RPE) cells (Marquardt et al. 1998, Petrukhin et al. 1998).

Literature References
PubMed ID Title Journal Year
9662395 Identification of the gene responsible for Best macular dystrophy

Petrukhin, K, Koisti, MJ, Bakall, B, Li, W, Xie, G, Marknell, T, Sandgren, O, Forsman, K, Holmgren, G, Andreasson, S, Vujic, M, Bergen, AA, McGarty-Dugan, V, Figueroa, D, Austin, CP, Metzker, ML, Caskey, CT, Wadelius, C

Nat. Genet. 1998
11904445 The vitelliform macular dystrophy protein defines a new family of chloride channels

Sun, H, Tsunenari, T, Yau, KW, Nathans, J

Proc. Natl. Acad. Sci. U.S.A. 2002
12907679 Structure-function analysis of the bestrophin family of anion channels

Tsunenari, T, Sun, H, Williams, J, Cahill, H, Smallwood, P, Yau, KW, Nathans, J

J. Biol. Chem. 2003
9700209 Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

Marquardt, A, Stöhr, H, Passmore, LA, Krämer, F, Rivera, A, Weber, BH

Hum. Mol. Genet. 1998
Participant Of
Catalyst Activity
Catalyst Activity
intracellular calcium activated chloride channel activity of BESTs [plasma membrane]
Physical Entity
This event is regulated
Orthologous Events
Cross References
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