BEST2

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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