Recombinant Human BEST1 Protein, GST-tagged

Specification
Gene Information
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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 :	Wheat Germ
Species :	Human
Tag :	GST
Form :	50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Molecular Mass :	95.5 kDa
AA Sequence :	MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQGRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGEDDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRVSFMGSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESLLHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRSVLHLNQGHCIALCPTPASLALSLPFLHNFLGFHHCQSTLDLRPALAWGIYLATFTGILGKCSGPFLTSPWYHPEDFLGPGEGR
Notes :	Best use within three months from the date of receipt of this protein.
Storage :	Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
Storage Buffer :	50 mM Tris-HCI, 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