WormBase Tree Display for Gene: HGNC:12703

HGNC:12703 Identity: Name: CGC_name: Best1 Inferred_automatically: AGR_import
      Other_name (12)
      Public_name: Best1
    DB_info: Database: HGNC id 12703
        AGR cURI HGNC:12703
        EnsEMBL ENSEMBL_geneID ENSG00000167995
        UniProt UniProt_AC O76090
        OMIM gene 607854
        DO id DOID:4448
            DOID:0110396
            DOID:0050661
            DOID:0050662
            DOID:0111569
    Species: Homo sapiens
    Status: Live
  Gene_info: Biotype: SO:0001217
    Ortholog (14)
    Structured_description: Automated_description: 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.[provided by RefSeq, Nov 2008] Inferred_automatically: AGR_import