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Bardet Biedl Syndrome Protein 4 (BBS4)

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Bardet Biedl Syndrome Protein 4 (BBS4)
CCC L246
HGNC 969
MGI 2143311
PubMed 15107855
RGD 1309134
UniProt Q96RK4
Wiki BBS4
BBS4 is a member of the Bardet-Biedl syndrome (BBS) gene family. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 4 (BBS4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 4 (BBS4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 4 (BBS4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 4 (BBS4) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 4 (BBS4) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 4 (BBS4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 4 (BBS4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 4 (BBS4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 4 (BBS4) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 4 (BBS4) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 4 (BBS4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 4 (BBS4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 4 (BBS4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 4 (BBS4) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 4 (BBS4) ELISA Kit Customized Service Offer
  1. "Identification of the gene that, when mutated, causes the human obesity syndrome BBS4."Nat. Genet. 28:188-191(2001) [PubMed] [Europe PMC] [Abstract]
  2. "Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)."DNA Seq. 15:213-218(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Analysis of the DNA sequence and duplication history of human chromosome 15." Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "Dissection of epistasis in oligogenic Bardet-Biedl syndrome."Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract]
  7. "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]
  8. "Novel interaction partners of Bardet-Biedl syndrome proteins."Cell Motil. Cytoskeleton 65:143-155(2008) [PubMed] [Europe PMC] [Abstract]
  9. "Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein."Hum. Mol. Genet. 23:5441-5451(2014) [PubMed] [Europe PMC] [Abstract]
  10. "BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance."Am. J. Hum. Genet. 71:22-29(2002) [PubMed] [Europe PMC] [Abstract]
  11. "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression."Nat. Genet. 36:462-470(2004) [PubMed] [Europe PMC] [Abstract]
  12. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
  13. "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]
  14. "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique."Hum. Mutat. 22:151-157(2003) [PubMed] [Europe PMC] [Abstract]
  15. "Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome." Am. J. Hum. Genet. 76:493-504(2005) [PubMed] [Europe PMC] [Abstract]
  16. "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]
  17. "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]