In 1999, a novel human transcript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a combination of cDNA selection while sequence analysis of CG-2 indicates that it is likely to encode a transmembrane protein and proposed to be a candidate for familial dysautonomia [35]. The gene discussed is TMEM245; the disease is Riley-Day syndrome.