" /> BEST1 wt Allele - CISMeF





Preferred Label : BEST1 wt Allele;

NCIt synonyms : Bestrophin 1 wt Allele; ARB; Best1V1Delta2 Gene; Vitelliform Macular Dystrophy 2 Gene; BMD; RP50; TU15B; BEST; VMD2;

NCIt 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).;

NCI Metathesaurus CUI : CL1912920;

GenBank Accession Number : AF057170;

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31/07/2025


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