Aliases for BEST3 Gene
External Ids for BEST3 Gene
Previous HGNC Symbols for BEST3 Gene
Previous GeneCards Identifiers for BEST3 Gene
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]
GeneCards Summary for BEST3 Gene
BEST3 (Bestrophin 3) is a Protein Coding gene. Diseases associated with BEST3 include vitelliform macular dystrophy 2 and vitelliform macular dystrophy. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST2.
UniProtKB/Swiss-Prot for BEST3 Gene
Forms calcium-sensitive chloride channels. Permeable to bicarbonate.