BBS9

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BBS9
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases BBS9, B1, C18, D1, PTHB1, Bardet-Biedl syndrome 9
External IDs MGI: 2442833 HomoloGene: 44480 GeneCards: BBS9
Genetically Related Diseases
craniosynostosis[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001033604
NM_001033605
NM_014451
NM_198428

NM_178415
NM_181316

RefSeq (protein)

NP_848502.1
NP_851833.2
NP_848502
NP_851833

Location (UCSC) Chr 7: 33.13 – 33.61 Mb Chr 9: 22.48 – 22.89 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Bardet-Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.[4][5]

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.[6]

Mutations in this gene are associated with the Bardet-Biedl syndrome.[5]

References[edit]

  1. ^ "Diseases that are genetically associated with BBS9 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ 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. 
  5. ^ 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 1285160Freely accessible. PMID 16380913. 
  6. ^ "Entrez Gene: Bardet-Biedl syndrome 9". 

External links[edit]

Further reading[edit]

External links[edit]