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- Table of Contents
Facts about Bestrophin-1.
.
Human | |
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Gene Name: | BEST1 |
Uniprot: | O76090 |
Entrez: | 7439 |
Belongs to: |
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bestrophin family |
ARB; Best disease; BEST; bestrophin 1; bestrophin-1; BMD; TU15B; vitelliform macular dystrophy 2; Vitelliform macular dystrophy protein 2; VMD2RP50
Mass (kDA):
67.684 kDA
Human | |
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Location: | 11q12.3 |
Sequence: | 11; NC_000011.10 (61946722..61965515) |
Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
Cell membrane; Multi-pass membrane protein. Basolateral cell membrane.
PMID: 9700209 by Marquardt A., et al. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
PMID: 9662395 by Petrukhin K., et al. Identification of the gene responsible for Best macular dystrophy.