Bestoxin
Bestoxin is a protein that is encoded by the BEST1 gene in humans. It is a member of the bestrophin family of calcium-activated chloride channels. Mutations in this gene are associated with a number of diseases, including Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, and adult-onset vitelliform macular dystrophy.
Function[edit]
Bestoxin, also known as Bestrophin 1, is a protein that in humans is encoded by the BEST1 gene. The protein encoded by this gene is a member of the bestrophin family of proteins. These proteins function as calcium-activated chloride channels. Bestoxin is predominantly located in the retinal pigment epithelium (RPE), where it plays a crucial role in the normal functioning of the retina.
Clinical significance[edit]
Mutations in the BEST1 gene are associated with several diseases. These include:
- Best vitelliform macular dystrophy (BVMD) - This is an autosomal dominant eye disorder that results in a progressive loss of central vision. The disease is characterized by the presence of a yellowish egg yolk-like lesion in the macula of the eye.
- Autosomal recessive bestrophinopathy (ARB) - This is a rare eye disorder that affects the retina. It is characterized by a reduced response to light, fluid-filled blisters in the retina, and a buildup of waste products in the RPE.
- Adult-onset vitelliform macular dystrophy (AVMD) - This is a late-onset form of macular dystrophy that is similar to BVMD. It is characterized by a gradual loss of central vision.
See also[edit]
References[edit]
.jpg){kind=link}