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Bardet Biedl Syndrome Protein 2 (BBS2)

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BBS

Bardet Biedl Syndrome Protein 2 (BBS2)
CCC L248
HGNC 967
MGI 2135267
PubMed 20618352
RGD 71091
UniProt Q9BXC9
Wiki BBS2
BBS2 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 2 (BBS2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 2 (BBS2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 2 (BBS2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 2 (BBS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 2 (BBS2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 2 (BBS2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 2 (BBS2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 2 (BBS2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 2 (BBS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 2 (BBS2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 2 (BBS2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 2 (BBS2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 2 (BBS2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 2 (BBS2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 2 (BBS2) ELISA Kit Customized Service Offer
  1. "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)." Hum. Mol. Genet. 10:865-874(2001) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Dissection of epistasis in oligogenic Bardet-Biedl syndrome."Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract]
  5. "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis."Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract]
  6. "Novel interaction partners of Bardet-Biedl syndrome proteins."Cell Motil. Cytoskeleton 65:143-155(2008) [PubMed] [Europe PMC] [Abstract]
  7. "BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly."Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010) [PubMed] [Europe PMC] [Abstract]
  8. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
  9. "Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder."Science 293:2256-2259(2001) [PubMed] [Europe PMC] [Abstract]
  10. "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome."Am. J. Hum. Genet. 72:1187-1199(2003) [PubMed] [Europe PMC] [Abstract]
  11. "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique."Hum. Mutat. 22:151-157(2003) [PubMed] [Europe PMC] [Abstract]
  12. "Further support for digenic inheritance in Bardet-Biedl syndrome."J. Med. Genet. 40:E104-E104(2003) [PubMed] [Europe PMC] [Abstract]
  13. "Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome." Am. J. Hum. Genet. 76:493-504(2005) [PubMed] [Europe PMC] [Abstract]
  14. "Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort." Eur. J. Hum. Genet. 13:607-616(2005) [PubMed] [Europe PMC] [Abstract]
  15. "Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes."Hum. Mutat. 31:429-436(2010) [PubMed] [Europe PMC] [Abstract]
  16. "BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition." Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract]