Gene Symbol | BBS9 |
Entrez Gene ID | 27241 |
Full Name | Bardet-Biedl syndrome 9 |
Synonyms | B1,C18,D1,PTHB1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]. |
Disorder MIM: | |
Disorder Html: | Bardet-Biedl syndrome 9, 615986 (3) |