# McKusick-Kaufman syndrome

> mammalian protein found in Mus musculus

**Wikidata**: [Q21496604](https://www.wikidata.org/wiki/Q21496604)  
**Source**: https://4ort.xyz/entity/mckusick-kaufman-syndrome-q21496604


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/Q9JI70)
3. Q20641742
4. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
5. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70)
6. [Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70)
7. [Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
8. [Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
9. [Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
10. [BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70)
11. [Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
12. [Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
13. [Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
14. [Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
15. [Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
16. [Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
17. [Cartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
18. [Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
19. [A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
20. [Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
21. [Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70)
22. [Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9JI70&geneProductId=UniProtKB:Q9JI70)
23. [BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9JI70)
24. ensembl Release 106