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
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: FTH1
Alternate names for this Gene: FHC|FTH|FTHL6|HFE5|PIG15|PLIF
Gene Summary: This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined.
Gene is located in Chromosome: 11
Location in Chromosome : 11q12.3
Description of this Gene: ferritin heavy chain 1
Type of Gene: protein-coding
rs121918287 in
BEST1;LOC107984334;FTH1 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 18179881 2008 Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
PMID 26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
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.