BEST1

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]

Description

Bestrophin 1

Tissue specificity

Tissue enhanced (bone marrow, brain)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Chromosome

11 (61950063 - 61965515)

Ensembl ID

ENSG00000167995  (ver. 103.38)

Orthologs

Mouse Best1: ENSMUSG00000037418

UniProt

O76090

neXtProt

NX_O76090

Human splice variants
Mouse splice variants

Protein structure