Entity Details

Primary name BEST1
Entity type gene
Source Source Link

Details

PrimaryID7439
RefseqGeneNG_009033
SymbolBEST1
Namebestrophin 1
Chromosome11
Location11q12.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsBEST1_HUMAN

GO terms

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GOName
GO:0005254 chloride channel activity
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006821 chloride transport
GO:0007601 visual perception
GO:0009925 basal plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030321 transepithelial chloride transport
GO:0034220 ion transmembrane transport
GO:0034707 chloride channel complex
GO:0042802 identical protein binding
GO:0050908 detection of light stimulus involved in visual perception
GO:0051924 regulation of calcium ion transport
GO:1902476 chloride transmembrane transport

Diseases

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Disease IDSourceNameDescription
153700 OMIMMacular dystrophy, vitelliform, 2 (VMD2)An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. The disease is caused by variants affecting the gene represented in this entry.
613194 OMIMRetinitis pigmentosa 50 (RP50)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry.
611809 OMIMBestrophinopathy, autosomal recessive (ARB)A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. The disease is caused by variants affecting the gene represented in this entry.
193220 OMIMVitreoretinochoroidopathy, autosomal dominant (ADVIRC)A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions