Species Human Entrez 27241 | Ensembl ENSG00000122507 | |
Aliases BBS9, B1, C18, D1, PTHB1, Bardet-Biedl syndrome 9 External IDs MGI: 2442833 HomoloGene: 44480 GeneCards: BBS9 | ||
Bardet-Biedl syndrome 9 is a protein that in humans is encoded by the BBS9 gene.
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.
Mutations in this gene are associated with the Bardet-Biedl syndrome.
References
BBS9 Wikipedia(Text) CC BY-SA