Aliases for BEST4 Gene
External Ids for BEST4 Gene
Previous HGNC Symbols for BEST4 Gene
Previous GeneCards Identifiers for BEST4 Gene
This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon. [provided by RefSeq, Jul 2008]
GeneCards Summary for BEST4 Gene
BEST4 (Bestrophin 4) is a Protein Coding gene. Diseases associated with BEST4 include Vitelliform Macular Dystrophy and Bestrophinopathy, Autosomal Recessive. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST2.
UniProtKB/Swiss-Prot Summary for BEST4 Gene
Forms calcium-sensitive chloride channels. Permeable to bicarbonate.