Bestrophin 1 (BEST1)

BMD; BEST; TU15B; VMD2; Vitelliform Macular Dystrophy 2

SPN	U507
HGNC	12703
MGI	1346332
PubMed	24664688
RGD	1311656
UniProt	O76090
Wiki	Bestrophin_1

BEST1 belongs to the bestrophin family of anion channels, which includes BEST2, BEST3, and BEST4. Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. Bestrophins are believed to function as chloride channels.

The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length.BEST1 has been shown by two independent studies to be regulated by Microphthalmia-associated transcription factor.

Reference

"Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)."
Hum. Mol. Genet. 7:1517-1525(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of the gene responsible for Best macular dystrophy."
Nat. Genet. 19:241-247(1998) [PubMed] [Europe PMC] [Abstract]

"Structure-function analysis of the bestrophin family of anion channels."
J. Biol. Chem. 278:41114-41125(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The vitelliform macular dystrophy protein defines a new family of chloride channels."
Proc. Natl. Acad. Sci. U.S.A. 99:4008-4013(2002) [PubMed] [Europe PMC] [Abstract]

"Bestrophin Cl- channels are highly permeable to HCO3-."
Am. J. Physiol. 294:C1371-C1377(2008) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa."
Am. J. Hum. Genet. 85:581-592(2009) [PubMed] [Europe PMC] [Abstract]

"Bestrophin gene mutations in patients with Best vitelliform macular dystrophy."
Genomics 58:98-101(1999) [PubMed] [Europe PMC] [Abstract]

"The mutation spectrum of the bestrophin protein -- functional implications."
Hum. Genet. 104:383-389(1999) [PubMed] [Europe PMC] [Abstract]

"Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies."
Hum. Genet. 104:449-453(1999) [PubMed] [Europe PMC] [Abstract]

"A novel spontaneous missense mutation in VMD2 gene is a cause of a Best macular dystrophy sporadic case."
Am. J. Ophthalmol. 129:260-262(2000) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of 3 genes in patients with Leber congenital amaurosis."
Arch. Ophthalmol. 118:538-543(2000) [PubMed] [Europe PMC] [Abstract]

"Allelic variation in the VMD2 gene in best disease and age-related macular degeneration."
Invest. Ophthalmol. Vis. Sci. 41:1291-1296(2000) [PubMed] [Europe PMC] [Abstract]

"Identification of novel VMD2 gene mutations in patients with Best vitelliform macular dystrophy."
Hum. Mutat. 17:235-235(2001) [PubMed] [Europe PMC] [Abstract]

"Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene."
Ophthalmic Genet. 22:107-115(2001) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel VMD2 mutation in Japanese patients with Best disease."
Ophthalmic Genet. 23:129-133(2002) [PubMed] [Europe PMC] [Abstract]

"Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy."
Ophthalmic Genet. 23:167-174(2002) [PubMed] [Europe PMC] [Abstract]

"Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)."
Hum. Mutat. 22:418-418(2003) [PubMed] [Europe PMC] [Abstract]

"Phenotype and genotype correlations in two best families."
Ophthalmology 110:1724-1731(2003) [PubMed] [Europe PMC] [Abstract]

"Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2)."
Hum. Genet. 114:608-608(2004) [PubMed] [Europe PMC] [Abstract]

"Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)."
Invest. Ophthalmol. Vis. Sci. 45:3683-3689(2004) [PubMed] [Europe PMC] [Abstract]

"Biallelic mutation of BEST1 causes a distinct retinopathy in humans."
Am. J. Hum. Genet. 82:19-31(2008) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the VMD2 gene in Thai families with Best macular dystrophy."
Ophthalmic Genet. 29:139-144(2008) [PubMed] [Europe PMC] [Abstract]

"Clinical and molecular genetic analysis of Best vitelliform macular dystrophy."
Retina 29:835-847(2009) [PubMed] [Europe PMC] [Abstract]