Products

Western Blot (Recombinant protein)

ELISA

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

BEST1

Gene Alias

ARB, BEST, BMD, TU15B, VMD2

Gene Description

bestrophin 1

Omim ID

Gene Ontology

Gene Summary

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

Other Designations

Best disease|vitelliform macular dystrophy protein 2