BBS9
| Bardet-Biedl syndrome 9 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | BBS9 ; B1; C18; D1; PTHB1 | ||||||||||||
| External IDs | OMIM: 607968 MGI: 2442833 HomoloGene: 44480 GeneCards: BBS9 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 27241 | 319845 | |||||||||||
| Ensembl | ENSG00000122507 | ENSMUSG00000035919 | |||||||||||
| UniProt | Q3SYG4 | Q811G0 | |||||||||||
| RefSeq (mRNA) | NM_001033604 | NM_178415 | |||||||||||
| RefSeq (protein) | NP_001028776 | NP_848502 | |||||||||||
| Location (UCSC) |
Chr 7: 33.13 – 33.61 Mb |
Chr 9: 22.48 – 22.89 Mb | |||||||||||
| PubMed search | |||||||||||||
Bardet-Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.[1][2]
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.[3]
Mutations in this gene are associated with the Bardet-Biedl syndrome.[2]
References
- ↑ Adams AE, Rosenblatt M, Suva LJ (April 1999). "Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells". Bone 24 (4): 305–13. doi:10.1016/S8756-3282(98)00188-4. PMID 10221542.
- 1 2 Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC (December 2005). "Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene". Am. J. Hum. Genet. 77 (6): 1021–33. doi:10.1086/498323. PMC 1285160. PMID 16380913.
- ↑ "Entrez Gene: Bardet-Biedl syndrome 9".
Further reading
- Scherer SW, Cheung J, MacDonald JR; et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science 300 (5620): 767–72. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205.
- Kang H, Lee SK, Kim MH; et al. (2008). "Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure". Hum. Reprod. 23 (6): 1457–65. doi:10.1093/humrep/den086. PMID 18349106.
- Nachury MV, Loktev AV, Zhang Q; et al. (2007). "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.". Cell 129 (6): 1201–13. doi:10.1016/j.cell.2007.03.053. PMID 17574030.
- Vernon EG, Malik K, Reynolds P; et al. (2003). "The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour.". Oncogene 22 (9): 1371–80. doi:10.1038/sj.onc.1206332. PMID 12618763.
- 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. PMC 528928. PMID 15489334.
- 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.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2002). "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. PMC 139241. PMID 12477932.
External links
- GeneReviews/NIH/NCBI/UW entry on Bardet-Biedl Syndrome
- Bbs9 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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