Gene Review:
BEST1 - bestrophin 1
Sus scrofa
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High impact information on BEST1
- Bestrophin is a 68-kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE) [1].
- Bestrophin was phosphorylated when expressed in RPE-J cells and this phosphorylation was sensitive to okadaic acid [1].
Analytical, diagnostic and therapeutic context of BEST1
- It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterized by a depressed light peak in the electrooculogram [1].
References
- Bestrophin interacts physically and functionally with protein phosphatase 2A. Marmorstein, L.Y., McLaughlin, P.J., Stanton, J.B., Yan, L., Crabb, J.W., Marmorstein, A.D. J. Biol. Chem. (2002) [Pubmed]
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