Recombinant Human BEST1 Protein, MYC/DDK-tagged

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 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.
Source :	HEK293
Species :	Human
Tag :	Myc&DDK
Form :	25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
Molecular Mass :	67.5 kDa
Purity :	> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration :	>50 ug/mL as determined by microplate BCA method

Gene Name	BEST1 bestrophin 1 [ Homo sapiens ]
Official Symbol	BEST1
Synonyms	ARB; BEST; BMD; RP50; TU15B; VMD2
Gene ID	7439
mRNA Refseq	NM_001139443
Protein Refseq	NP_001132915
MIM	607854
UniProt ID	O76090