"BEST1" Related Products

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Recombinant Human BEST1 cell lysate

Cat.No.: BEST1-1910HCL
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
Species: Human
Size: 100 ul
Storage Buffer: 1X Sample Buffer (50 mM Tris-HCl, 2% SDS, 10% glycerol, 300 mM 2-mercaptoethanol, 0.01% Bromophenol blue)
Applications: Western Blot;
Gene Name: BEST1 bestrophin 1 [ Homo sapiens ]
Official Symbol: BEST1
Synonyms: BEST1; bestrophin 1; vitelliform macular dystrophy 2 , VMD2; bestrophin-1; BEST; Best disease; BMD; vitelliform macular dystrophy protein 2; ARB; RP50; VMD2; TU15B;
Gene ID: 7439
mRNA Refseq: NM_001139443
Protein Refseq: NP_001132915
MIM: 607854
UniProt ID: O76090
Chromosome Location: 11q12
Function: chloride channel activity; contributes_to chloride channel activity; ion channel activity;

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