Recombinant Human BEST1 cell lysate

• Cat.No.: BEST1-1910HCL

Specification

• Species: Human
• Tag: Non
• 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
• 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 Information

• 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