BEST2
Description
The BEST2 (bestrophin 2) is a protein-coding gene located on chromosome 19.
BEST2 is a protein encoded by the BEST2 gene. It is a member of the bestrophin gene family of anion channels, which share a similar gene structure with highly conserved exon-intron boundaries but distinct 3' ends. Bestrophins are transmembrane proteins containing a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutations in bestrophin 1 are associated with vitelliform macular dystrophy. BEST2 is primarily expressed in the non-pigmented ciliary epithelium and colon.
BEST2 forms calcium-sensitive chloride channels that are permeable to bicarbonate.
BEST2 is also known as VMD2L1.
Associated Diseases
- X-linked endothelial corneal dystrophy
- autosomal dominant keratitis
- X-linked corneal dermoid
- corneal dystrophy, punctiform and polychromatic pre-descemet
- Schnyder corneal dystrophy
- granular corneal dystrophy type I
- Lisch epithelial corneal dystrophy
- macular corneal dystrophy
- corneal endothelial dystrophy
- familial pterygium of the conjunctiva
- congenital glaucoma
- ocular cystinosis
- Thiel-Behnke corneal dystrophy
- granular corneal dystrophy type II
