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protein

Neuroligin-3

NLGN3
protein:Q9NZ94sfari:2sfari:syndromicdisease:asd

Gene

NLGN3

Organism

Homo sapiens(9606)

Length

848 aa

Mass

93,895 Da

AI summarysource-grounded · cited inline
claude-haiku-4-5-20251001

Neuroligin-3 (NLGN3) is a cell surface protein encoded on the X chromosome that mediates cell-cell interactions primarily through binding to neurexin family members (UniProt: Q9NZ94). The protein functions in synapse formation and synaptic signal transmission by clustering other synaptic proteins at the synapse, though it is not strictly required for initial synapse development. It may also contribute to glia-neuron and glia-glia interactions during peripheral nervous system development.

NLGN3 is expressed in neuronal tissues where it plays a critical role in synaptic function. The protein is associated with autism spectrum disorder and related neurodevelopmental phenotypes through its role in synaptic organization and intercellular communication.

NLGN3 is classified as a Category 2 (strong candidate) gene for autism spectrum disorder and is implicated in X-linked autism (AUTSX1) (SFARI Cat 2; sfari:syndromic). Mutations in NLGN3 have been linked to autism with associated intellectual disability and communication impairments, highlighting its importance in the genetic architecture of autism spectrum disorders.

Generated from the curated entity record below. May contain errors — verify against source links.

Genetic Evidence · ASD

SFARI 2Syndromic

Strong candidate — functional studies support ASD association

Source: SFARI Gene database · gene.sfari.org

Related Publications

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Function

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 may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity)

Disease associations

  • Autism, X-linked 1AUTSX1

    A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability.

Sources

Last updated 5/6/2026, 5:24:01 AM