LYNX1

Chr 8

Ly6/neurotoxin 1

NCBI Gene: 66004 ENSG00000180155 UniProt: P0DP58

The LYNX1 protein is a membrane-bound modulator of nicotinic acetylcholine receptors that prevents excessive neuronal excitation by enhancing receptor desensitization and regulating receptor trafficking to the cell surface. Mutations in LYNX1 cause autosomal dominant epileptic encephalopathy with onset in infancy, characterized by seizures and developmental delay. The gene shows tolerance to loss-of-function variants, suggesting the pathogenic variants may act through alternative mechanisms.

ResearchSummary from RefSeq, UniProt

This gene encodes a GPI-anchored, cell membrane bound member of the Ly6/uPAR (LU) superfamily of proteins containing the unique three-finger LU domain. This protein interacts with nicotinic acetylcholine receptors (nAChRs), and is thought to function as a modulator of nAChR activity to prevent excessive excitation. Alternatively spliced transcript variants have been found for this gene. Read-through transcription between this gene and the neighboring downstream gene (SLURP2) generates naturally-occurring transcripts (LYNX1-SLURP2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Sep 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.35

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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