Best1 - bestrophin 1 Gene

Also Known as Bmd; Vmd2; mBest1

Species: Mus musculus

Gene Type: protein coding
Gene ID: 24115

Summary

Predicted to enable Chloride Channel activity and identical protein binding activity. Acts upstream of or within detection of light stimulus involved in visual perception and regulation of calcium ion transport. Predicted to be located in basolateral plasma membrane. Predicted to be part of Chloride Channel complex. Is expressed in choroid plexus; neocortex; and telencephalon meninges. Used to study bestrophinopathy and vitelliform macular dystrophy. Human ortholog(s) of this gene implicated in autosomal dominant vitreoretinochoroidopathy; bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Orthologous to human BEST1 (bestrophin 1). [provided by Alliance of Genome Resources, Apr 2022]

Best1 Products (1)

mRNA Protein Name
NM_011913.2 NP_036043.2 bestrophin-1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Références Source
enables ligand-gated channel activity IDA
IDA: Inferred from direct assay
20929730 MGI
Biological Process GO Annotation Evidence Références Source
acts upstream of or within detection of light stimulus involved in visual perception IMP
IMP: Inferred from mutant phenotype
16636205 MGI
involved in gamma-aminobutyric acid secretion, neurotransmission IMP
IMP: Inferred from mutant phenotype
20929730 MGI
involved in glutamate secretion IDA
IDA: Inferred from direct assay
23021213 MGI
acts upstream of or within regulation of calcium ion transport IMP
IMP: Inferred from mutant phenotype
16636205 MGI
involved in regulation of synaptic plasticity IDA
IDA: Inferred from direct assay
25645137 MGI
Cellular Component GO Annotation Evidence Références Source
located in membrane microdomain IDA
IDA: Inferred from direct assay
23021213 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

bestrophin-1

  • best macular dystrophy

  • vitelliform macular dystrophy 2 homolog

  • vitelliform macular dystrophy protein 2 homolog

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Nom du produit
Effect
Pureté
Rare Diseases
HY-163126 AChE-IN-52 Inhibitor / Unkown
HY-RS01474 BEST1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Best1 NCBI NCBI:7439