| Description : |
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with six other BBS proteins. |
| 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 : |
106.3 kDa |
| AA Sequence : |
MLLPVFTLKLRHKISPRMVAIGRYD GTHPCLAAATQTGKVFIHNPHTRNQ HVSASRVFQSPLESDVSLLNINQAV SCLTAGVLNPELGYDALLVGTQTNL LAYDVYNNSDLFYREVADGANVVVL GTLGDISSPLAIIGGNCALQGFNHE GSDLFWTVTGDNVNSLALCDFDGDG KKELLVGSEDFDIRVFKEDEIVAEM TETEIVTSLCPMYGSRFGYALSNGT VGVYDKTSRYWRIKSKNHAMSIHAF DLNSDGVNELITGWSNGKVDARSDR TGEVIFKDNFSSAIAGVVEGDYRMD GHIQLICCSVDGEIRGYLPGTAEMR GNLMDTSAEQDLIRELSQKKQNLLL ELRNYEENAKAELASPLNEADGHRG IIPANTRLHTTLSVSLGNETQTAHT ELRISTSNDTIIRAVLIFAEGIFTG ESHVVHPSIHNLSSSICIPIVPPKD VPVDLHLKAFVGYRSSTQFHVFEST RQLPRFSMYALTSLDPASEPISYVN FTIAERAQRVVVWLGQNFLLPEDTH IQNAPFQVCFTSLRNGGHLHIKIKL SGEITINTDDIDLAGDIIQSMASFF AIEDLQVEADFPVYFEELRKVLVKV DEYHSVHQKLSADMADHSNLIRSLL VGAEDARLMRDMKTMKSRYMELYDL NRDLLNGYKIRCNNHTELLGNLKAV NQAIQRAGRLRVGKPKNQVITACRD AIRSNNINTLFKIMRVGTASS |
| 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. |
