BBS12 explained

Bardet–Biedl syndrome 12 is a protein that in humans is encoded by the BBS12 gene.^[1]

Mutations in this gene are associated with the Bardet–Biedl syndrome.^[1]

Further reading

• Marion V, Stoetzel C, Schlicht D . Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. . Proc. Natl. Acad. Sci. U.S.A. . 106 . 6 . 1820–5 . 2009 . 19190184 . 10.1073/pnas.0812518106 . 2635307 . 2009PNAS..106.1820M . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .

External links

• GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome

Notes and References

1. Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H . Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome . Am. J. Hum. Genet. . 80 . 1 . 1–11 . January 2007 . 17160889 . 1785304 . 10.1086/510256 .