Human Alpha-Aminoadipic Semialdehyde Synthase (AASS)

Gene ID / UniProt ID / EC 10157 / Q9UDR5 / 1.5.1.8, 1.5.1.9 Target Nominator Paulo Arruda (UNICAMP, Brazil) SGC Authors Jola Kopec, Izabella Pena, Elzbieta Rembeza, Mark McLaughlin, Oleg Fedorov, Claire Strain-Damerell, Solenne Goubin, Sabrina MacKinnon, Nicola Burgess-Brown, Paul Brennan, Alex MacKenzie, Paulo Arruda, Wyatt W. Yue Collaborating Authors N/A Target PI Wyatt Yue (SGC Oxford) Therapeutic Area(s) Metabolic & Neurological disorders Disease Relevance Gene upstream of ALDH7A1, the molecular cause of pyridoxinedependent epilepsy (OMIM 266100) Date approved by TEP Evaluation Group 2nd June 2017