KEGG   VARIANT: 54413v1
Entry
54413v1                      Variant                               
Name
NLGN3 mutation
Type
Loss of function
Gene
NLGN3  neuroligin 3 [KO:K07378]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300336
Network
nt06546  IgSF CAM signaling
Disease
H01882  Asperger syndrome
H02111  Autism
Reference
PMID:12669065
  Authors
Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T
  Title
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
  Journal
Nat Genet 34:27-9 (2003)
DOI:10.1038/ng1136
Reference
PMID:15152050
  Authors
Comoletti D, De Jaco A, Jennings LL, Flynn RE, Gaietta G, Tsigelny I, Ellisman MH, Taylor P
  Title
The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing.
  Journal
J Neurosci 24:4889-93 (2004)
DOI:10.1523/JNEUROSCI.0468-04.2004
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