Gene
BEST1
bestrophin 1
- HGNC 12703(opens in a new tab)
- Ensembl gene ENSG00000167995(opens in a new tab)
- NCBI Gene 7439(opens in a new tab)
Summary
- Cytogenetic location
- 11q12.3
- Coordinates
- Chromosome 11: 61,950,351–61,964,461 (GRCh38)
- Exons
- 11 exons across 14.1 kb
- Protein
- 585 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- BMD, BEST, RP50
- Previous symbols
- VMD2
- MANE Select transcript
- ENST00000378043.9NM_004183.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Hereditary Macular Dystrophies
- Best Vitelliform Macular Dystrophy (BEST1-Related)Autosomal dominant
A dominant macular dystrophy caused by changes in BEST1, with yellow yolk-like deposits under the macula.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Regular eye checks allow early treatment of complications such as abnormal blood vessel growth.
- Autosomal Recessive BestrophinopathyAutosomal recessive
A retinal dystrophy caused by changes in both copies of BEST1.
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Eye monitoring includes checks for raised eye pressure (angle-closure glaucoma), which can occur in this condition.
Vitreoretinopathy
- Vitreoretinal Degeneration
- 3 GenCC submitters rate it definitive or strong
Broader groupings
Retinitis Pigmentosa
One of 77 genes linked to it
A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How BEST1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 14.1 kb; 1,758 of those bases code for the protein.
How a genome test reads BEST1
139
positions in BEST1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 14.1 kb of BEST1, introns included, not only the 2.2 kb of exons.
Traits linked to BEST1
The Human Phenotype Ontology lists these as features of the rare conditions BEST1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Abnormal choroid morphology
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Abnormality of the eye
- Abnormality of vision
- Abnormally small eyeball
- Blindness
- Cross-eyed
Show 46 more traits
- Cystoid macular degeneration
- Extreme sensitivity of the eyes to light
- Glaucoma
- Involuntary, rapid, rhythmic eye movements
- Metamorphopsia
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Severe farsightedness
- Spicular pigmentation of the retina
- Visual impairment
- Vitelliform macular lesion
- Abnormal central response of multifocal electroretinogram
- Abnormal color vision
- Abnormal full-field electroretinogram
- Bulging cornea
- Chorioretinal scalloped atrophy
- Cystoid macular edema
- Difficulties with night vision
- Eye muscle paralysis
- Light eye color
- Loss of peripheral vision
- Optic disc drusen
- Optic disc pallor
- Partial loss of field of vision
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Color blindness
- Decreased clarity of vision
- Photopsia
- Retinal nonattachment
- Abnormality of chorioretinal pigmentation
- Clouding of the lens of the eye at birth
- Cornea of eye less than 10mm in diameter
- Decreased light- and dark-adapted electroretinogram amplitude
- Farsightedness
- Macular dystrophy
- Pigmentary retinopathy
- Posterior staphyloma
- Pulverulent cataract
- Retinal detachment
- Retinal flecks
- Retinal pigment epithelial atrophy
- Rod-cone dystrophy
- Subretinal fluid
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). BEST1 gene: bestrophin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/best1
Dante Labs. BEST1 gene: bestrophin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/best1
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