A single mutation near the C-terminus in alpha/beta hydrolase fold protein family causes a defect in protein processing.
De Jaco A, Kovarik Z, Comoletti D, Jennings LL, Gaietta G, Ellisman MH, Taylor P.
De Jaco A, et al.
Chem Biol Interact. 2005 Dec 15;157-158:371-2. doi: 10.1016/j.cbi.2005.10.057.
Chem Biol Interact. 2005.
PMID: 16429495
An Arg to Cys mutation in the extracellular domain of neuroligin-3 (NL3) was recently found in a twin set with autism [S. Jamain, H. Quach, C. Betancur, M. Rastam, C. Colineaux, I.C. ...The Cys substitution in NL3 causes altered intracellular protein trafficking, intracell …
An Arg to Cys mutation in the extracellular domain of neuroligin-3 (NL3) was recently found in a twin set with autism [S. Jamain, H. …