BBS2

Bardet-Biedl syndrome 2, also known as BBS2, is a human gene.cite web | title = Entrez Gene: BBS2 Bardet-Biedl syndrome 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=583| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.cite web | title = Entrez Gene: BBS2 Bardet-Biedl syndrome 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=583| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Kwitek-Black AE, Carmi R, Duyk GM, "et al." |title=Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. |journal=Nat. Genet. |volume=5 |issue= 4 |pages= 392–6 |year= 1994 |pmid= 8298649 |doi= 10.1038/ng1293-392
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Beales PL, Reid HA, Griffiths MH, "et al." |title=Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome. |journal=Nephrol. Dial. Transplant. |volume=15 |issue= 12 |pages= 1977–85 |year= 2001 |pmid= 11096143 |doi=
*cite journal | author=Nishimura DY, Searby CC, Carmi R, "et al." |title=Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). |journal=Hum. Mol. Genet. |volume=10 |issue= 8 |pages= 865–74 |year= 2001 |pmid= 11285252 |doi=
*cite journal | author=Katsanis N, Ansley SJ, Badano JL, "et al." |title=Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. |journal=Science |volume=293 |issue= 5538 |pages= 2256–9 |year= 2001 |pmid= 11567139 |doi= 10.1126/science.1063525
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Badano JL, Ansley SJ, Leitch CC, "et al." |title=Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. |journal=Am. J. Hum. Genet. |volume=72 |issue= 3 |pages= 650–8 |year= 2003 |pmid= 12567324 |doi=
*cite journal | author=Beales PL, Badano JL, Ross AJ, "et al." |title=Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. |journal=Am. J. Hum. Genet. |volume=72 |issue= 5 |pages= 1187–99 |year= 2003 |pmid= 12677556 |doi=
*cite journal | author=Badano JL, Kim JC, Hoskins BE, "et al." |title=Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. |journal=Hum. Mol. Genet. |volume=12 |issue= 14 |pages= 1651–9 |year= 2003 |pmid= 12837689 |doi=
*cite journal | author=Hoskins BE, Thorn A, Scambler PJ, Beales PL |title=Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 151–7 |year= 2004 |pmid= 12872256 |doi= 10.1002/humu.10241
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes