BBS9

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Bardet-Biedl syndrome 9
Identifiers
Symbols BBS9 ; B1; C18; D1; PTHB1
External IDs OMIM607968 MGI2442833 HomoloGene44480 GeneCards: BBS9 Gene
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:
33.17 – 33.65 Mb
Chr 9:
22.48 – 22.89 Mb
PubMed search [1] [2]

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[edit]

  1. ^ 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. 
  2. ^ a b 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. 
  3. ^ "Entrez Gene: Bardet-Biedl syndrome 9". 

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