Bestoxin

File:Parabuthus transvaalicus (male).jpg

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

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

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

• Bestrophin
• Retinal diseases
• Macular dystrophy

External links

• NCBI Gene
• Genetics Home Reference