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Bardet Biedl Syndrome Protein 7 (BBS7)

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BBS2L1; BBS2-like protein 1

Bardet Biedl Syndrome Protein 7 (BBS7)
CCC L247
HGNC 18758
MGI 1918742
PubMed 23572516
RGD 1309264
UniProt Q8IWZ6
Wiki BBS7
The BBS7 gene contains a single 672-amino acid open reading frame (ORF). The orthologous mouse protein exhibits 91.5% identity to the human BBS7 protein. Northern blot analysis of human adult and fetal tissues detected a 2.7-kb BBS7 transcript expressed at low to moderate levels in most human tissues. Northern blot analysis and RT-PCR confirmed the presence of 2 alternatively spliced isoforms.In 1 pedigree, they identified a more than 5-cM region of homozygosity, on 4q26-q27, that encompassed the BBS7 genomic locus. Performing additional linkage studies, they established that only the affected individual was homozygous across the region extending at least 2.6 cM proximally and more than 3 cM distal to BBS7, and they derived a multipoint lod score of 1.8 at theta = 0.001 for D4S408, which lies 2.6 cM proximal to BBS7.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 7 (BBS7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 7 (BBS7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 7 (BBS7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 7 (BBS7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 7 (BBS7) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 7 (BBS7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 7 (BBS7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 7 (BBS7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 7 (BBS7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 7 (BBS7) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 7 (BBS7) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 7 (BBS7) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 7 (BBS7) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 7 (BBS7) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 7 (BBS7) ELISA Kit Customized Service Offer
  1. "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2."Am. J. Hum. Genet. 72:650-658(2003) [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. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  4. "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]
  5. "Dissection of epistasis in oligogenic Bardet-Biedl syndrome."Nature 439:326-330(2006) [PubMed] [Europe PMC] [Abstract]
  6. "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]
  7. "Novel interaction partners of Bardet-Biedl syndrome proteins."Cell Motil. Cytoskeleton 65:143-155(2008) [PubMed] [Europe PMC] [Abstract]
  8. "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]
  9. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
  10. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
  11. "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]
  12. "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]
  13. "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]
  14. "KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes." Nat. Genet. 43:601-606(2011) [PubMed] [Europe PMC] [Abstract]
  15. "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum." Nat. Genet. 43:189-196(2011) [PubMed] [Europe PMC] [Abstract]