QuickView for best disease (gene)

Gene Symbol:

BEST1 Homo sapiens

Full name:

bestrophin 1

Synonyms:

ARB, BEST, BMD, RP50, TU15B, VMD2, bestrophin-1, Best disease, Best1V1Delta2, vitelliform macular dystrophy protein 2

Genomic Location:

Chr 11: 61474408-61488981

Description:

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 ch...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CACTGCC_MIR34A_MIR34C_MIR449 ,  ATCTTGC_MIR31 ,  CAGGTG_E12_Q6 ,  TGCACTG_MIR148A_MIR152_MIR148B ,  ACTGCCT_MIR34B ,  RNGTGGGC_UNKNOWN

Cytogenetic Map:

11q12.3

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