Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71

Authors :: Nishimura, Darryl Y.
Baye, Lisa M.
Perveen, Rahat
Searby, Charles C.
Avila-Fernandez, Almudena
Pereiro, Ines
Ayuso, Carmen
Valverde, Diana
Bishop, Paul N.
Manson, Forbes D.C.
Urquhart, Jill
Stone, Edwin M.
Slusarski, Diane C.
Black, Graeme C.M.
Sheffield, Val C.
Source :: American Journal of Human Genetics. May 14, 2010, Vol. 86 Issue 5, p686, 10 p.
Publication Year :: 2010
Abstract: Homozygosity mapping and gene expression studies were performed to identify Retinitis pigmentosa gene, C2ORF71. The localization of C2ORF71 to primary cilia in cultured cells indicated the likely localization of the protein to the connecting cilium or outer segment of photoreceptor cells.