BEST1

Also known as ARB, BEST, BMD, RP50, TU15B, VMD2, Bestrophin 1, Best1V1Delta2

protein-coding gene in the species Homo sapiens

In the Vinony graph

Vinony's link graph records 362 inbound references to BEST1, and connects out to plasma membrane, Q180686 and Ensembl genome database project.

Vinony files it under Genes on human chromosome 11 and Ion channels.

Vinony links it to 4 Wikipedia language editions.

Gene data

BEST1

Name: bestrophin 1
Type: protein-coding
Position: 61,949,808–61,965,515 (+)
Aliases: ARB, BEST, BMD, Best1V1Delta2, RP50, TU15B, VMD2
Ensembl: ENSG00000167995
RefSeq RNA: NM_001139443.3, NM_001300786.2, NM_001300787.2, NM_001363591.3, NM_001363592.2
RefSeq protein: NP_001132915.1, NP_001287715.1, NP_001287716.1, NP_001350520.1, NP_001350521.1

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.[provided by RefSeq, Nov 2008].