BBS9
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesBBS9, B1, C18, D1, PTHB1, Bardet-Biedl syndrome 9
External IDsOMIM: 607968 MGI: 2442833 HomoloGene: 44480 GeneCards: BBS9
Orthologs
SpeciesHumanMouse
Entrez

27241

319845

Ensembl

ENSG00000122507

ENSMUSG00000035919

UniProt

Q3SYG4

Q811G0

RefSeq (mRNA)

NM_001033604
NM_001033605
NM_014451
NM_198428

NM_178415
NM_181316
NM_001360258
NM_001360259

RefSeq (protein)

NP_848502
NP_851833
NP_001347187
NP_001347188

Location (UCSC)n/aChr 9: 22.39 – 22.8 Mb
PubMed search[2][3]
Wikidata
View/Edit HumanView/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

  1. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000035919 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  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. 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.
  6. "Entrez Gene: Bardet–Biedl syndrome 9".

Further reading


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