CIDeRGeneral Information:
| Id: | 5,856 (click here to show other Interactions for entry) |
| Diseases: |
Bardet-Biedl syndrome 17
- [OMIM]
Diabetes mellitus, type II - [OMIM] Insulin resistance |
| Mammalia | |
| article | |
| Reference: | Seo S et al.(2011) A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened PLoS Genet. 7 [PMID: 22072986] |
Interaction Information:
| Comment | Since polydactyly is one of the cardinal features of BBS and a hallmark phenotype of Sonic Hedgehog (SHH) signaling defect, the roles of BBSome and LZTFL1 in the SHH pathway were examined. BBSome function facilitates ciliary localization of the SHH signal transducer Smoothened (SMO) and LZTFL1 suppresses SMO localization to cilia. |
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Formal Description Interaction-ID: 55371 |
|
| Comment | Since polydactyly is one of the cardinal features of BBS and a hallmark phenotype of Sonic Hedgehog (SHH) signaling defect, the roles of BBSome and LZTFL1 in the SHH pathway were examined. BBSome function facilitates ciliary localization of the SHH signal transducer Smoothened (SMO) and LZTFL1 suppresses SMO localization to cilia. |
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Formal Description Interaction-ID: 55372 |
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