Gene: LOC105369823

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: BEST3

Alternate names for this Gene: VMD2L3

Gene Summary: BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). 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. 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 (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 12

Location in Chromosome : 12q15

Description of this Gene: bestrophin 3

Type of Gene: protein-coding

rs775498 in LOC105369823;BEST3 gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

rs11177782 in LOC105369823;BEST3 gene and Memory performance PMID 29274321 2018 Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages.