DISEASES

Disease-gene associations mined from literature

Literature associating NLGN1 and Kaufman oculocerebrofacial syndrome

NLGN1 [ENSP00000392500]

Neuroligin-1; Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and probably mediates its effects by recruiting and clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Required to maintain wakefulness quality and normal synchrony of cerebral cortex activity during wakefulness and sleep.

Synonyms:  NLGN1,  NLGN1p,  hNLGN1,  A0A1D5RMP7,  C9J4D3 ...

Linkouts:  STRING  Pharos  UniProt