NLGN4Y

Chr Y

neuroligin 4 Y-linked

Also known as: HNL4Y

NCBI Gene: 22829 ENSG00000165246 UniProt: Q8NFZ3

This protein functions as a postsynaptic cell adhesion molecule that interacts with neurexins to facilitate cell-cell interactions essential for functional synapse formation. Mutations cause X-linked intellectual disability and autism spectrum disorders. The gene follows X-linked inheritance and shows relatively low constraint to loss-of-function variation.

ResearchSummary from RefSeq, UniProt

This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.86

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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