Ontology highlight
ABSTRACT:
SUBMITTER: Setta-Kaffetzi N
PROVIDER: S-EPMC4067562 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Setta-Kaffetzi Niovi N Simpson Michael A MA Navarini Alexander A AA Patel Varsha M VM Lu Hui-Chun HC Allen Michael H MH Duckworth Michael M Bachelez Hervé H Burden A David AD Choon Siew-Eng SE Griffiths Christopher E M CE Kirby Brian B Kolios Antonios A Seyger Marieke M B MM Prins Christa C Smahi Asma A Trembath Richard C RC Fraternali Franca F Smith Catherine H CH Barker Jonathan N JN Capon Francesca F
American journal of human genetics 20140501 5
Adaptor protein complex 1 (AP-1) is an evolutionary conserved heterotetramer that promotes vesicular trafficking between the trans-Golgi network and the endosomes. The knockout of most murine AP-1 complex subunits is embryonically lethal, so the identification of human disease-associated alleles has the unique potential to deliver insights into gene function. Here, we report two founder mutations (c.11T>G [p.Phe4Cys] and c.97C>T [p.Arg33Trp]) in AP1S3, the gene encoding AP-1 complex subunit σ1C, ...[more]