Gene: LOC107984334

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: BEST1

Alternate names for this Gene: ARB|BEST|BMD|Best1V1Delta2|RP50|TU15B|VMD2

Gene Summary: This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.3

Description of this Gene: bestrophin 1

Type of Gene: protein-coding

rs121918289 in LOC107984334;BEST1 gene and Autosomal dominant vitreoretinochoroidopathy PMID 15452077 2004 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

PMID 22234150 2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

rs200277476 in LOC107984334;BEST1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 10788642 2000 Cortical image density determines the probability of target discovery during active search.

PMID 21273940 2011 Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.

PMID 21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

PMID 26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

PMID 18179881 2008 Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

PMID 26200502 2015 Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.

PMID 21330666 2011 Two ARB-associated mutants (p.D312N and p.V317M) that were not trafficked correctly nor targeted to the proteasome had a distinctive appearance, possibly indicative of aggresome or aggresome-like inclusion bodies.

PMID 19853238 2009 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

rs1109748 in LOC107984334;BEST1 gene and Phospholipid measurement PMID 21829377 2011 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.

rs267606680 in LOC107984334;BEST1 gene and RETINITIS PIGMENTOSA, CONCENTRIC (disorder) PMID 22234150 2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

rs267606676 in LOC107984334;BEST1 gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1109748 in LOC107984334;BEST1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs1565036465 in LOC107984334;BEST1 gene and Vitelliform Macular Dystrophy PMID 18703557 2008 A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.

PMID 19357557 2009 Clinical and molecular genetic analysis of best vitelliform macular dystrophy.

PMID 10682987 2000 A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.

PMID 18766995 2008 Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.

PMID 10331951 1999 Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.

PMID 10394929 1999 The mutation spectrum of the bestrophin protein--functional implications.

PMID 10798642 2000 Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

PMID 11241846 2001 Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.

PMID 12187431 2002 Identification of a novel VMD2 mutation in Japanese patients with Best disease.

PMID 10453731 1999 Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.

PMID 11449320 2001 Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

PMID 18400985 2008 Bestrophin Cl- channels are highly permeable to HCO3-.

PMID 14517959 2003 Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).

PMID 9662395 1998 Identification of the gene responsible for Best macular dystrophy.

PMID 13129869 2003 Phenotype and genotype correlations in two best families.

PMID 15176385 2004 Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2).

PMID 9700209 1998 Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

PMID 21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

PMID 12324875 2002 Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.

PMID 11241846 2001 ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S).

PMID 11241846 2001 ABSTRACT We report five novel VMD2 mutations in Best's macular dystrophy patients (S16F, I73N, R92H, V235L, and N296S).

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 19357557 2009 However, the p.Ala243Val seems to cause a mild and relatively invariable BVMD phenotype.

PMID 22234150 2012 Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).