- Description of 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.
- Gene Symbol:
- BEST1
- Alias Symbols:
- ARB; BMD; BEST; RP50; VMD2; TU15B
- Protein Accession# :
- NP_004174
- Nucleotide Accession#:
- BC015220
- Swissprot Id:
- O76090
- Molecular Weight:
- 49
- Tag:
- GST in N-terminal
- Quality Control:
- This product was tested on western blot.
Application : Western blot standard.
Observed Molecular Weight: 48
Expression system : Bacteria - Reconstitution and Storage:
- Add 200ul of distilled water. Final concentration is 1 mg/ml. For longer periods of storage, store at -20°C. Avoid repeat freeze-thaw cycles.
- Key Reference:
- N/A
- Datasheets / Downloads:
- APL10166
- Protocol:
- Tips Information:
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