Ontology highlight
ABSTRACT:
SUBMITTER: Salas IH
PROVIDER: S-EPMC5312877 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Salas Isabel H IH Callaerts-Vegh Zsuzsanna Z Arranz Amaia M AM Guix Francesc X FX D'Hooge Rudi R Esteban José A JA De Strooper Bart B Dotti Carlos G CG
PloS one 20170216 2
Tetraspanins (Tspan) are transmembrane proteins with important scaffold and signalling functions. Deletions of Tetraspanin 6 (Tspan6) gene, a member of the tetraspanin family, have been reported in patients with Epilepsy Female-restricted with Mental Retardation (EFMR). Interestingly, mutations in Tspan7, highly homologous to Tspan6, are associated with X-linked intellectual disability, suggesting that these two proteins are important for cognition. Considering recent evidences showing that Tspa ...[more]