Recombinant Full Length Human BEST1 Protein, GST-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 :	In Vitro Cell Free System
Species :	Human
Tag :	GST
Form :	50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Molecular Mass :	95.5 kDa
Protein length :	604 amino acids
AA Sequence :	MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRVSFM GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR SVLHLNQGHC IALCPTPASL ALSLPFLHNF LGFHHCQSTL DLRPALAWGI YLATFTGILG KCSGPFLTSP WYHPEDFLGP GEGR
Storage :	Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
Storage Buffer :	50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

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