| Description : |
This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. A mutation in this gene has also been implicated in nonsyndromic retinitis pigmentosa. Alternative splicing results in multiple transcript variants. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
57.3 kDa |
| AA Sequence : |
MSSEMEPLLLAWSYFRRRKFQLCAD LCTQMLEKSPYDQAAWILKARALTE MVYIDEIDVDQEGIAEMMLDENAIA QVPRPGTSLKLPGTNQTGGPSQAVR PITQAGRPITGFLRPSTQSGRPGTM EQAIRTPRTAYTARPITSSSGRFVR LGTASMLTSPDGPFINLSRLNLTKY SQKPKLAKALFEYIFHHENDVKTAL DLAALSTEHSQYKDWWWKVQIGKCY YRLGMYREAEKQFKSALKQQEMVDT FLYLAKVYVSLDQPVTALNLFKQGL DKFPGEVTLLCGIARIYEEMNNMSS AAEYYKEVLKQDNTHVEAIACIGSN HFYSDQPEIALRFYRRLLQMGIYNG QLFNNLGLCCFYAQQYDMTLTSFER ALSLAENEEEAADVWYNLGHVAVGI GDTNLAHQCFRLALVNNNNHAEAYN NLAVLEMRKGHVEQARALLQTASSL APHMYEPHFNFATISDKIGDLQRSY VAAQKSEAAFPDHVDTQHLIKQLRQ HFAMLTRTRPLEQKLISEEDLAAND ILDYKDDDDKV |
| Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
| Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
| Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
| Concentration : |
50 μg/mL as determined by BCA |
| Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |
