NRN1

Chr 6

neuritin 1

Also known as: NRN, dJ380B8.2

NCBI Gene: 51299 ENSG00000124785 UniProt: Q9NPD7 OMIM: 607409

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.

OMIM 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]

OMIM ResearchGenerating clinical summary…

LOEUF 0.46

Clinical Summary— NRN1

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.86) — some intolerance to loss-of-function variants.

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