Catalog No.
YHK78001
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Gly380-Glu599
Predicted molecular weight
27.32 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q8IWZ6
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Bardet-Biedl syndrome 7 protein, BBS2-like protein 1, BBS7, BBS2L1
Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review., PMID:39092285
Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy., PMID:38956823
Syndromic ciliopathy: a taiwanese single-center study., PMID:38671463
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients., PMID:38584252
Proteomic analysis of boar sperm with differential ability of liquid preservation at 17 °C., PMID:38029685
Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families., PMID:37897612
Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island., PMID:37612261
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants., PMID:37293956
Discovering genetic linkage between periodontitis and type 1 diabetes: A bioinformatics study., PMID:37051594
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees., PMID:36833331
Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations., PMID:36672825
Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies., PMID:36596648
A 5' UTR Mutation Contributes to Down-Regulation of Bbs7 in the Berlin Fat Mouse., PMID:36361806
A deletion containing a CTCF-element in intron 8 of the Bbs7 gene is partially responsible for juvenile obesity in the Berlin Fat Mouse., PMID:34910225
A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico., PMID:34526762
Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G > A., PMID:34146953
Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model., PMID:33729075
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome., PMID:33517424
Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome., PMID:32448990
Structure and activation mechanism of the BBSome membrane protein trafficking complex., PMID:31939736
Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa., PMID:31589838
Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex., PMID:31530639
RIN2 and BBS7 variants as cause of a coincidental syndrome., PMID:31521835
A novel missense variant in the BBS7 gene underlying Bardet-Biedl syndrome in a consanguineous Pakistani family., PMID:31469663
Pectoral Fin Anomalies in tbx5a Knockdown Zebrafish Embryos Related to the Cascade Effect of N-Cadherin and Extracellular Matrix Formation., PMID:31336923
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes., PMID:31283077
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome., PMID:30839500
[Progress of research on Bardet-Biedl syndrome]., PMID:29653013
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex., PMID:29590217
Primary Cilium Formation and Ciliary Protein Trafficking Is Regulated by the Atypical MAP Kinase MAPK15 in Caenorhabditis elegans and Human Cells., PMID:29021280
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families., PMID:28761321
Top2b is involved in the formation of outer segment and synapse during late-stage photoreceptor differentiation by controlling key genes of photoreceptor transcriptional regulatory network., PMID:28370415
(Pro)renin receptor (ATP6AP2) depletion arrests As4.1 cells in the G0/G1 phase thereby increasing formation of primary cilia., PMID:28215051
Fine mapping a major obesity locus (jObes1) using a Berlin Fat Mouse × B6N advanced intercross population., PMID:27538457
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome., PMID:27486776
Expansion of phenotype and genotypic data in CRB2-related syndrome., PMID:27004616
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan., PMID:26325687
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology., PMID:25937446
Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome., PMID:25553308
Preclinical pharmacokinetic, biodistribution, imaging and therapeutic efficacy of (177)Lu-Labeled glycated bombesin analogue for gastrin-releasing peptide receptor-positive prostate tumor targeting., PMID:25498002
Identification and characterization of a novel allele of Caenorhabditis elegans bbs-7., PMID:25486278
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms., PMID:24938409
The nucleotide-binding proteins Nubp1 and Nubp2 are negative regulators of ciliogenesis., PMID:23807208
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking., PMID:23572516
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome., PMID:22500027
Genotype-phenotype correlations in Bardet-Biedl syndrome., PMID:22410627
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation., PMID:22302990
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes., PMID:22228099
For research use only. Not for human or drug use.
