BEST1 bestrophin 1
Gene ID: 7439, updated on 28-Oct-2024Gene type: protein coding
Also known as: ARB; BMD; BEST; RP50; VMD2; TU15B; Best1V1Delta2
- See all available tests in GTR for this gene
- Go to complete Gene record for BEST1
- Go to Variation Viewer for BEST1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant vitreoretinochoroidopathy | See labs |
| Autosomal recessive bestrophinopathy | See labs |
| Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. GeneReviews: Not available | |
| Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. GeneReviews: Not available | |
| Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. GeneReviews: Not available | |
| Retinitis pigmentosa 50 | See labs |
| Vitelliform macular dystrophy 2 | See labs |
Genomic context
- Location:
- 11q12.3
- Sequence:
- Chromosome: 11; NC_000011.10 (61949821..61965515)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BEST1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BEST1 gene homepage
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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