# McKusick-Kaufman syndrome

> mammalian protein found in Homo sapiens

**Wikidata**: [Q21105444](https://www.wikidata.org/wiki/Q21105444)  
**Source**: https://4ort.xyz/entity/mckusick-kaufman-syndrome-q21105444


## References

1. UniProt
2. [InterPro Release 71.0](http://www.ebi.ac.uk/interpro/protein/Q9NPJ1)
3. Q20641742
4. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NPJ1)
5. [Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NPJ1)
6. [A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NPJ1)
7. [Dissection of epistasis in oligogenic Bardet-Biedl syndrome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NPJ1)
8. [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:Q9NPJ1)
9. [Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NPJ1)
10. [Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NPJ1)
11. [Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NPJ1)
12. [GOA](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9NPJ1&geneProductId=UniProtKB:Q9NPJ1)
13. [Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9NPJ1&geneProductId=UniProtKB:Q9NPJ1)
14. [Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NPJ1)
15. [Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium](http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q9NPJ1)
16. [Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.](http://www.ebi.ac.uk/QuickGO/annotations?protein=Q9NPJ1&geneProductId=UniProtKB:Q9NPJ1)
17. Ensembl Release 99