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Products BEST1 Protein Lysate (GST tagged) (Expressed in bacteria) (200ug)
| Presku: | APL10167 |
| Size: | 200ug |
| Weight: | 41 |
| Gene: | 7439 |
| Target: | 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. |
| Alternative names: | ARB; BMD; BEST; RP50; VMD2; TU15B |
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