| 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 : |
MFEKLTLYCDSYIQLIPISFVLGFY VTLVVTRWWNQYENLPWPDRLMSLV SGFVEGKDEQGRLLRRTLIRYANLG NVLILRSVSTAVYKRFPSAQHLVQA GFMTPAEHKQLEKLSLPHNMFWVPW VWFANLSMKAWLGGRIRDPILLQSL LNEMNTLRTQCGHLYAYDWISIPLV YTQVVTVAVYSFFLTCLVGRQFLNP AKAYPGHELDLVVPVFTFLQFFFYV GWLKVAEQLINPFGEDDDDFETNWI VDRNLQVSLLAVDEMHQDLPRMEPD MYWNKPEPQPPYTAASAQFRRVSFM GSTFNISLNKEEMEFQPNQEDEEDA HAGIIGRFLGLQSHDHHPPRANSRT KLLWPKRESLLHEGLPKNHKAAKQN VRGQEDNKAWKLKAVDAFKSAPLYQ RPGYYSAPQTPLSPTPMFFPLEPSA PSKLHSVTGIDTKDKSLKTVSSGAK KSFELLSESDGALMEHPEVSQVRRK TVEFNLTDMPEIPENHLKEPLEQSP TNIHTTLKDHMDPYWALENRSVLHL NQGHCIALCPTPASLALSLPFLHNF LGFHHCQSTLDLRPALAWGIYLATF TGILGKCSGPFLTSPWYHPEDFLGP GEGR |
| 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. |
