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

rs121918288 in BEST1 gene and BESTROPHINOPATHY, AUTOSOMAL RECESSIVE PMID 19853238 2009 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

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

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

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

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

rs1555096248 in BEST1 gene and Retinal Dystrophies PMID 23290749 2013 Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.

rs2736596 in BEST1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs121918288 in BEST1 gene and Vitelliform Macular Dystrophy PMID 21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 11756879 2001 Visual outcome following subretinal hemorrhage in Best disease.

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