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Bardet-Biedl syndrome 1
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| Identifiers | ||||||||
| Symbols | BBS1; BBS2L2; FLJ23590; MGC126183; MGC126184; MGC51114 | |||||||
| External IDs | OMIM: 209901 MGI: 1277215 HomoloGene: 11641 | |||||||
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| Orthologs | ||||||||
| Human | Mouse | |||||||
| Entrez | 582 | 52028 | ||||||
| Ensembl | n/a | ENSMUSG00000006464 | ||||||
| Refseq | NM_024649 (mRNA) NP_078925 (protein) |
NM_001033128 (mRNA) NP_001028300 (protein) |
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| Location | n/a | Chr 19: 4.89 - 4.91 Mb | ||||||
| Pubmed search | [1] | [2] | ||||||
Bardet-Biedl syndrome 1, also known as BBS1, is a human gene.[1]
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.[1]
References
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.
- 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.
- 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.
- 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.
- 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:. PMID 12118255.
- 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:. PMID 12477932.
- 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.
- 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.
- 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.
- 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.
- 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:. PMID 14702039.
- 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:. PMID 15314642.
- 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:. PMID 15489334.
- 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:. PMID 15517396.
- 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:. PMID 17065520.
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