| Description : |
This gene encodes an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of band-like calcification with simplified gyration and polymicrogyria (BLC-PMG), an autosomal recessive neurologic disorder that is also known as pseudo-TORCH syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene is present 1.5 Mb downstream on the q arm of chromosome 5. |
| Source : |
In Vitro Cell Free System |
| Species : |
Human |
| Form : |
Liquid |
| Molecular Mass : |
83.530kDa inclusive of tags |
| Protein Length : |
522 amino acids |
| AA Sequence : |
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLS QPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIF ACVASTLAWDRGYGTSLLGGSVGYPYGGSGFGSYGSGYGY GYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSV IRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPT AQSSGSLYGSQIYALCNQFYTPAATGLYVDQYSYHYCVVD PQEAIAIVLGFMIIVAFALIIFFAVKTRRKMDRYDKSNIL WDKEHIYDEQPPNVEEWVKNVSAGTQDVPSPPSDYVERVD SPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPV DDFRQPRYSSGGNFETPSKRAPAKGRAGRSKRTEQDHYET DYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGL QEYKSLQSELDEINKELSRLDKELDDYREESEEYMAAADE YNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQ KT |
| Purity : |
Proprietary Purification |
| Storage : |
Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles. |
| Storage Buffer : |
pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione. |
