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BEST1 Full-Length MS Protein Standard

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Product Description


NameBEST1 Full-Length MS Protein Standard
Cat#CPFL314156
Protein Namebestrophin 1
SymbolBEST1
SynonymsARB; BEST; BMD; RP50; TU15B; VMD2
AccessionNM_004183
Cytogenetic11q13
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionBEST1 Full-Length MS Protein Standard (NP_004174), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. 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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