Recombinant Human Bestrophin-1 (BEST1), Truncated

Uniprot Id

O76090

Target Species

Human

Target Name

BEST1

Target Full Name

Bestrophin-1

Target Function

Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.

Target Involvement

Macular dystrophy, vitelliform, 2 (VMD2); Retinitis pigmentosa 50 (RP50); Bestrophinopathy, autosomal recessive (ARB); Vitreoretinochoroidopathy, autosomal dominant (ADVIRC)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Basolateral cell membrane.

Target Protein Families

Bestrophin family

Target Tissue Specificity

Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

Target Synonyms

BEST1; VMD2; Bestrophin-1; TU15B; Vitelliform macular dystrophy protein 2

Target Background

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.