BEST1

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

protein-coding gene in the species Homo sapiens

Gene data

BEST1

Name: bestrophin 1
Type: protein-coding
Position: 61,950,063–61,965,515 (+)
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].