NRN1

Chr 6

neuritin 1

Also known as: NRN, dJ380B8.2

NCBI Gene: 51299 ENSG00000124785 UniProt: Q9NPD7

The protein promotes neurite outgrowth and branching of neuritic processes in hippocampal and cortical neurons, functioning as a GPI-anchored protein that responds to neural activity and neurotrophins. The gene is highly constrained against loss-of-function variants (pLI = 0.86, LOEUF = 0.46), suggesting that mutations would likely cause significant neurological phenotypes, though specific associated diseases have not yet been definitively established in humans. Further research is needed to characterize the clinical manifestations of NRN1-related disorders.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the neuritin family, and is expressed in postmitotic-differentiating neurons of the developmental nervous system and neuronal structures associated with plasticity in the adult. The expression of this gene can be induced by neural activity and neurotrophins. The encoded protein contains a consensus cleavage signal found in glycosylphoshatidylinositol (GPI)-anchored proteins. The encoded protein promotes neurite outgrowth and arborization, suggesting its role in promoting neuritogenesis. Overexpression of the encoded protein may be associated with astrocytoma progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

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)

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P/LP submissions

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P/LP missense

0.46

LOEUF

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Mechanism

Some data sources returned errors (1)

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