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Gene Information
Gene symbol: BBS1
Gene name: Bardet-Biedl syndrome 1
HGNC ID: 966
Synonyms: FLJ23590
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | BBS2 | 1 hits |
| 2 | LEPR | 1 hits |
| 3 | MKKS | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 12118255 | Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS. |
| 2 | 20472660 | While overlap between the MKKS and BBS phenotypes has previously been reported for cases with BBS6 mutations, we also observed MKKS phenotypes involving BBS10 and BBS12 and Alström-like phenotypes associated with mutations in BBS1, BBS2, BBS6, BBS7, BBS9, BBS10 and BBS12 for the first time. |
| 3 | 19150989 | Furthermore, we found that BBS1 protein physically interacts with the LepR and that loss of BBS proteins perturbs LepR trafficking. |