Ontology highlight
ABSTRACT:
SUBMITTER: Schoenmakers E
PROVIDER: S-EPMC2993594 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
Schoenmakers Erik E Agostini Maura M Mitchell Catherine C Schoenmakers Nadia N Papp Laura L Rajanayagam Odelia O Padidela Raja R Ceron-Gutierrez Lourdes L Doffinger Rainer R Prevosto Claudia C Luan Jian'an J Montano Sergio S Lu Jun J Castanet Mireille M Clemons Nick N Groeneveld Matthijs M Castets Perrine P Karbaschi Mahsa M Aitken Sri S Dixon Adrian A Williams Jane J Campi Irene I Blount Margaret M Burton Hannah H Muntoni Francesco F O'Donovan Dominic D Dean Andrew A Warren Anne A Brierley Charlotte C Baguley David D Guicheney Pascale P Fitzgerald Rebecca R Coles Alasdair A Gaston Hill H Todd Pamela P Holmgren Arne A Khanna Kum Kum KK Cooke Marcus M Semple Robert R Halsall David D Wareham Nicholas N Schwabe John J Grasso Lucia L Beck-Peccoz Paolo P Ogunko Arthur A Dattani Mehul M Gurnell Mark M Chatterjee Krishna K
The Journal of clinical investigation 20101115 12
Selenium, a trace element that is fundamental to human health, is incorporated into some proteins as selenocysteine (Sec), generating a family of selenoproteins. Sec incorporation is mediated by a multiprotein complex that includes Sec insertion sequence-binding protein 2 (SECISBP2; also known as SBP2). Here, we describe subjects with compound heterozygous defects in the SECISBP2 gene. These individuals have reduced synthesis of most of the 25 known human selenoproteins, resulting in a complex p ...[more]