Article
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1997
Wise C A, Chiang L C, Paznekas W A, Sharma M, Musy M M, Ashley J A, Lovett M, Jabs E W
Abstract excerpt
Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, whose predicted protein structure reveals repeated motifs...
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