BEST1 wt Allele

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;

Details

Origin ID

C192722;

UMLS CUI

C5781213;

Automatic exact mappings (from CISMeF team)
- Becker muscular dystrophy [ORDO Disease]
OMIM relation
- Bestrophin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q12.3 [NCIt concept]
gene_plays_role_in_process
- Ion Transport Process [NCIt concept]
- Ligand Binding [NCIt concept]
- Transmembrane Transport [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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