Protein corresponding to aa1-604 from full length human VMD2
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. Applications: Suitable for use in Western Blot. Other applications not tested. Recommended Dilution: Optimal dilutions to be determined by the researcher. AA Sequence: MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYE NLPWPDRLMSLVSGFVEGKDEQGRLLRRTLIRYANLG NVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEK LSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSL LNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFF LTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVG WLKVAEQLINPFGEDDDDFETNWIVDRNLQVSLLAVD EMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRVS FMGSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGL QSHDHHPPRANSRTKLLWPKRESLLHEGLPKNHKAAK QNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQ TPLSPTPMFFPLEPSAPSKLHSVTGIDTKDKSLKTVSS GAKKSFELLSESDGALMEHPEVSQVRRKTVEFNLTDM PEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRSV LHLNQGHCIALCPTPASLALSLPFLHNFLGFHHCQSTL DLRPALAWGIYLATFTGILGKCSGPFLTSPWYHPEDFL GPGEGR Storage and Stability: May be stored at 4C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20C. Aliquots are stable for 12 months after receipt. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
