NEGR1

Chr 1

neuronal growth regulator 1

Also known as: DMML2433, IGLON4, KILON, Ntra

NCBI Gene: 257194 ENSG00000172260 UniProt: Q7Z3B1

NEGR1 encodes a cell adhesion protein that promotes axon sprouting and is involved in synapse assembly and nervous system development. Mutations cause neurodevelopmental disorders with intellectual disability and autism spectrum features. The gene follows autosomal recessive inheritance and is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.25).

ResearchSummary from RefSeq, UniProt

Enables transmembrane transporter binding activity. Acts upstream of or within several processes, including cholesterol homeostasis; protein localization to plasma membrane raft; and regulation of protein stability. Located in late endosome and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

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

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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