NRARP

Chr 9

NOTCH regulated ankyrin repeat protein

NCBI Gene: 441478 ENSG00000198435 UniProt: Q7Z6K4

The NRARP protein functions as a downstream effector of Notch signaling that regulates angiogenesis, somite segmentation during development, and integrates Notch and Wnt signaling pathways. Mutations in NRARP cause autosomal recessive spondylocostal dysostosis, characterized by vertebral segmentation defects and rib malformations. This gene shows relatively low constraint to loss-of-function mutations (LOEUF 1.5), consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Involved in Notch signaling pathway. Acts upstream of or within negative regulation of Notch signaling pathway and positive regulation of canonical Wnt signaling pathway. [provided by Alliance of Genome Resources, Jul 2025]

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

—

P/LP missense

1.50

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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