LRRC50 explained

Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.^{[1] [2]}

Function

Leucine-rich repeat-containing protein 50 is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli.^[1]

Clinical significance

Mutations in the LRRC50 gene are associated with primary ciliary dyskinesia.^[2]

Further reading

• van Rooijen E, Giles RH, Voest EE, etal . LRRC50, a conserved ciliary protein implicated in polycystic kidney disease. . J. Am. Soc. Nephrol. . 19 . 6 . 1128–38 . 2008 . 18385425 . 10.1681/ASN.2007080917 . 2396934.
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928.
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129.
• Strausberg RL, Feingold EA, Grouse LH, etal . 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 . free .
• Loges NT, Olbrich H, Becker-Heck A, etal . Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. . Am. J. Hum. Genet. . 85 . 6 . 883–9 . 2009 . 19944400 . 10.1016/j.ajhg.2009.10.018 . 2795801.

External links

• GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia

Notes and References

1. Web site: Entrez Gene: leucine rich repeat containing 50.
2. Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S . Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia . Am. J. Hum. Genet. . 85 . 6 . 890–6 . December 2009 . 19944405 . 2790569 . 10.1016/j.ajhg.2009.11.008 .