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BBS9

{{Short description|Gene of the species Homo sapiens}}

{{Infobox_gene}}

Bardet–Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.{{cite journal |vauthors=Adams AE, Rosenblatt M, Suva LJ |title=Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells |journal=Bone |volume=24 |issue=4 |pages=305–13 |date=April 1999 |pmid=10221542 |doi=10.1016/S8756-3282(98)00188-4 }}{{cite journal |vauthors=Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC |title=Comparative genomics and gene expression analysis identifies BBS9, a new Bardet–Biedl syndrome gene |journal=Am. J. Hum. Genet. |volume=77 |issue=6 |pages=1021–33 |date=December 2005 |pmid=16380913 |pmc=1285160 |doi=10.1086/498323 }}

The expression of the Bardet–Biedl syndrome 9 protein is downregulated by parathyroid hormone in osteoblastic cells, and therefore, is thought to be involved in parathyroid hormone action in bones.{{cite web |title=Entrez Gene: Bardet–Biedl syndrome 9 |url=https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=27241 }}

Mutations in this gene are associated with the Bardet–Biedl syndrome.

References

{{Reflist}}

External links

  • {{UCSC gene info|BBS9}}

Further reading

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  • {{cite journal |vauthors=Scherer SW, Cheung J, MacDonald JR |title=Human chromosome 7: DNA sequence and biology. |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |pmc=2882961 |doi= 10.1126/science.1083423|bibcode=2003Sci...300..767S |display-authors=etal}}
  • {{cite journal |vauthors=Kang H, Lee SK, Kim MH |title=Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure |journal=Hum. Reprod. |volume=23 |issue= 6 |pages= 1457–65 |year= 2008 |pmid= 18349106 |doi= 10.1093/humrep/den086|display-authors=etal|doi-access=free }}
  • {{cite journal |vauthors=Nachury MV, Loktev AV, Zhang Q |title=A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. |journal=Cell |volume=129 |issue= 6 |pages= 1201–13 |year= 2007 |pmid= 17574030 |doi= 10.1016/j.cell.2007.03.053|s2cid=11917072 |display-authors=etal|doi-access=free }}
  • {{cite journal |vauthors=Vernon EG, Malik K, Reynolds P |title=The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. |journal=Oncogene |volume=22 |issue= 9 |pages= 1371–80 |year= 2003 |pmid= 12618763 |doi= 10.1038/sj.onc.1206332|display-authors=etal|doi-access=free }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA |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 |pmc=528928|display-authors=etal}}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T |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|display-authors=etal|doi-access=free }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH |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= 2002 |pmid= 12477932 |doi= 10.1073/pnas.242603899 |pmc=139241|bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}

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External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome]
  • {{MeSH name|Bbs9+protein,+human|3=Bbs9 protein, human}}

{{Ciliary proteins}}

{{gene-7-stub}}