NRN1

Chr 6

neuritin 1

Also known as: NRN, dJ380B8.2

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.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.46
Clinical SummaryNRN1
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.86) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.46LOEUF
pLI 0.860
Z-score 2.35
OE 0.00 (0.000.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.14Z-score
OE missense 0.64 (0.520.81)
53 obs / 82.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.000.46)
00.351.4
Missense OE0.64 (0.520.81)
00.61.4
Synonymous OE1.10
01.21.6
LoF obs/exp: 0 / 6.4Missense obs/exp: 53 / 82.2Syn Z: -0.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NRN1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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