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BEST1

Chr 11q12.3

bestrophin 1

Aliases:
BMD, BEST, RP50
MANE:
ENST00000378043.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Retinal disorders

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Structural eye disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Bilateral congenital or childhood onset cataracts

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Corneal abnormalities

  • Glaucoma (developmental)

Disease associations (Open Targets)

  • vitelliform macular dystrophy 2

    0.84
  • autosomal recessive bestrophinopathy

    0.82
  • Best vitelliform macular dystrophy

    0.79
  • autosomal dominant vitreoretinochoroidopathy

    0.78
  • retinitis pigmentosa 50

    0.76
  • retinitis pigmentosa

    0.66
  • MRCS syndrome

    0.59
  • Retinal dystrophy

    0.58
  • BEST1-related dominant retinopathy

    0.57
  • adult-onset foveomacular vitelliform dystrophy

    0.51

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Bestrophin-1

Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Allows the movement of chloride and hydrogencarbonate (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Found in a partially open conformation leading to significantly smaller chloride movement (PubMed:35789156). Upon F2R/PAR-1 activation, the sequestered calcium is released into the cytosol of astrocytes, leading to the (Ca2+)-dependent release of L-glutamate into the synaptic cleft that targets the neuronal postsynaptic GRIN2A/NMDAR receptor resulting in the synaptic plasticity regulation (By similarity). Upon activation of the norepinephrine-alpha-1 adrenergic receptor signaling pathway, transports as well D-serine than L-glutamate in a (Ca2+)-dependent manner, leading to activation of adjacent NMDAR receptors and therefore regulates the heterosynaptic long-term depression and metaplasticity during initial memory acquisition (By similarity). Releases the 4-aminobutanoate neurotransmitter in a (Ca2+)-dependent manner, and participates in its tonic release from cerebellar glial cells (By similarity)

Curated MONDO disease pages that list BEST1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.