BEST1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human BEST1 wild-type allele is located in the vicinity of 11q12.3 and is approximately 16 kb in length. This allele, which encodes bestrophin-1 protein, is involved in chloride and bicarbonate transport. Mutation of the gene is involved in a number of retinopathies including juvenile-onset vitelliform macular dystrophy (VMD2; Best macular dystrophy), adult-onset vitelliform macular dystrophy (AVMD), autosomal recessive bestrophinopathy, autosomal dominant vitreoretinochoroidopathy, concentric retinitis pigmentosa, retinitis pigmentosa type 50 and microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 (MRCS2).

**Synonyms:** - ARB - BEST - BMD - Best1V1Delta2 Gene - Bestrophin 1 wt Allele - RP50 - TU15B - VMD2 - Vitelliform Macular Dystrophy 2 Gene