Catalog No.
YHK71801
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Met1-Thr321
Predicted molecular weight
31.15 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q9BXC9
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 2 protein, BBS2
Variations in rumen microbiota and host genome impacted feed efficiency in goat breeds., PMID:39944650
Deciphering the Genetic and Epidemiological Landscape of Inherited Retinal Diseases (IRDs) in a Cohort of Eastern Iranian Patients., PMID:39761966
Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report., PMID:39175229
Positive selection in cilia-related genes may facilitate deep-sea adaptation of Thermocollonia jamsteci., PMID:39127215
Syndromic ciliopathy: a taiwanese single-center study., PMID:38671463
Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients., PMID:38584252
Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A., PMID:38407766
Exosomal circBBS2 inhibits ferroptosis by targeting miR-494 to activate SLC7A11 signaling in ischemic stroke., PMID:37603538
Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From Qatar., PMID:37329217
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants., PMID:37293956
Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review., PMID:37003573
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
The role of BBS2 in regulating adipogenesis and the association of its sequence variants with meat quality in Qinchuan cattle., PMID:35718089
A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (BBS2) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog., PMID:34828377
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts., PMID:34365092
Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor., PMID:34244442
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome., PMID:33688495
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics., PMID:33664507
Photoreceptor cilia, in contrast to primary cilia, grant entry to a partially assembled BBSome., PMID:33517424
Myelomeningocele genotype-phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways., PMID:33470056
Cone Photoreceptor Degeneration and Neuroinflammation in the Zebrafish Bardet-Biedl Syndrome 2 (bbs2) Mutant Does Not Lead to Retinal Regeneration., PMID:33324636
Ciliopathies and the Kidney: A Review., PMID:33039432
Correction of cilia structure and function alleviates multi-organ pathology in Bardet-Biedl syndrome mice., PMID:32620959
Ubiquitin links smoothened to intraflagellar transport to regulate Hedgehog signaling., PMID:32435793
The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retina., PMID:32433491
Renal features of Bardet Biedl syndrome: A single center experience., PMID:31951329
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4., PMID:31877759
Molecular architecture of the Bardet-Biedl syndrome protein 2-7-9 subcomplex., PMID:31530639
Requirement of IFT-B-BBSome complex interaction in export of GPR161 from cilia., PMID:31471295
Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes., PMID:31283077
Effects of resveratrol on reducing spermatogenic dysfunction caused by high-intensity exercise., PMID:31060552
Single-particle tracking localization microscopy reveals nonaxonemal dynamics of intraflagellar transport proteins at the base of mammalian primary cilia., PMID:30759057
BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex., PMID:29590217
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons., PMID:29126234
Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes., PMID:28800606
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts., PMID:28717663
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients., PMID:28502102
Insulin regulates Bbs4 during adipogenesis., PMID:28371235
Targeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9., PMID:28216641
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants., PMID:28143435
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome., PMID:27486776
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects., PMID:27058611
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan., PMID:26325687
Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome., PMID:26078953
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing., PMID:25999675
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery., PMID:25552655
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa., PMID:25541840
For research use only. Not for human or drug use.
