BBS1

Bardet-Biedl syndrome 1
Identifiers
Symbols	BBS1 ; BBS2L2; FLJ23590; MGC126183; MGC126184; MGC51114
External IDs	Template:OMIM5 Template:MGI HomoloGene: 11641
Gene ontology Biological process Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Bardet-Biedl syndrome 1, also known as BBS1, is a human gene.

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.

Further reading

• Beales PL, Warner AM, Hitman GA; et al. (1997). "Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families". J. Med. Genet. 34 (2): 92–8. PMID 9039982.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Katsanis N, Lewis RA, Stockton DW; et al. (2000). "Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees". Am. J. Hum. Genet. 65 (6): 1672–9. PMID 10577921.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Young TL, Woods MO, Parfrey PS; et al. (2000). "A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM". Am. J. Hum. Genet. 65 (6): 1680–7. PMID 10577922.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Beales PL, Reid HA, Griffiths MH; et al. (2001). "Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome". Nephrol. Dial. Transplant. 15 (12): 1977–85. PMID 11096143.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mykytyn K, Nishimura DY, Searby CC; et al. (2002). "Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome". Nat. Genet. 31 (4): 435–8. doi:10.1038/ng935. PMID 12118255.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mykytyn K, Nishimura DY, Searby CC; et al. (2003). "Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)". Am. J. Hum. Genet. 72 (2): 429–37. PMID 12524598.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Badano JL, Ansley SJ, Leitch CC; et al. (2003). "Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am. J. Hum. Genet. 72 (3): 650–8. PMID 12567324.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Beales PL, Badano JL, Ross AJ; et al. (2003). "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome". Am. J. Hum. Genet. 72 (5): 1187–99. PMID 12677556.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Badano JL, Kim JC, Hoskins BE; et al. (2003). "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus". Hum. Mol. Genet. 12 (14): 1651–9. PMID 12837689.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fan Y, Esmail MA, Ansley SJ; et al. (2004). "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome". Nat. Genet. 36 (9): 989–93. doi:10.1038/ng1414. PMID 15314642.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fan Y, Green JS, Ross AJ; et al. (2005). "Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval". Hum. Genet. 116 (1–2): 62–71. doi:10.1007/s00439-004-1184-9. PMID 15517396.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Azari AA, Aleman TS, Cideciyan AV; et al. (2006). "Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration". Invest. Ophthalmol. Vis. Sci. 47 (11): 5004–10. doi:10.1167/iovs.06-0517. PMID 17065520.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)