BEST1 : bestrophin 1
Description
The BEST1 (bestrophin 1) is a protein-coding gene located on chromosome 11.
The BEST1 gene provides instructions for making a protein called bestrophin-1, which appears to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina, which is the light-sensitive tissue that lines the back of the eye. The retinal pigment epithelium is involved in the growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and color. Bestrophin-1 functions as a channel across cell membranes in the retinal pigment epithelium. Charged chlorine atoms (chloride ions) are transported through these channels in response to cellular signals. Some studies suggest that bestrophin-1 may also help regulate the entry of charged calcium atoms (calcium ions) into cells of the retinal pigment epithelium. Other potential functions of bestrophin-1 are under study.
Bestrophin-1 forms calcium-sensitive chloride channels that are highly permeable to bicarbonate.
BEST1 is also known as ARB, BEST, BMD, Best1V1Delta2, RP50, TU15B, VMD2.
Associated Diseases
- Best vitelliform macular dystrophy
- Macular dystrophy, vitelliform, 2
- Bestrophinopathy, autosomal recessive
- Vitreoretinochoroidopathy
- Nanophthalmos
- Retinitis pigmentosa
- Adult-onset foveomacular vitelliform dystrophy
- Retinitis pigmentosa-50
- Vitelliform macular dystrophy
- Age-related macular degeneration
- Autosomal dominant vitreoretinochoroidopathy
