Bardet Biedl Syndrome Protein 10 (BBS10)

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C12orf58

Bardet Biedl Syndrome Protein 10 (BBS10)
BBS10 is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. 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 is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 10 (BBS10) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 10 (BBS10) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 10 (BBS10) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 10 (BBS10) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 10 (BBS10) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 10 (BBS10) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 10 (BBS10) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 10 (BBS10) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 10 (BBS10) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 10 (BBS10) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Bardet Biedl Syndrome Protein 10 (BBS10) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Bardet Biedl Syndrome Protein 10 (BBS10) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Bardet Biedl Syndrome Protein 10 (BBS10) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Bardet Biedl Syndrome Protein 10 (BBS10) CLIA Kit Customized Service Offer
n/a ELISA Kit for Bardet Biedl Syndrome Protein 10 (BBS10) ELISA Kit Customized Service Offer
  1. "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]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation."Proc. Natl. Acad. Sci. U.S.A. 106:1820-1825(2009) [PubMed] [Europe PMC] [Abstract]
  4. "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]
  5. "BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus." Nat. Genet. 38:521-524(2006) [PubMed] [Europe PMC] [Abstract]
  6. "Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes."Hum. Mutat. 31:429-436(2010) [PubMed] [Europe PMC] [Abstract]
  7. "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]
  8. "Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome."Gene 515:84-88(2013) [PubMed] [Europe PMC] [Abstract]