RTN4RL1

Chr 17

reticulon 4 receptor like 1

Also known as: NGRH2, NgR3

NCBI Gene: 146760 ENSG00000185924 UniProt: Q86UN2 OMIM: 610461

The protein functions as a cell surface receptor that regulates axon regeneration in the central nervous system, contributes to corpus callosum formation, and restricts dendritic spine and synapse formation during brain development. Mutations cause autosomal recessive spastic paraplegia with intellectual disability and corpus callosum abnormalities. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

Enables signaling receptor activity. Predicted to be involved in negative regulation of axon regeneration. Located in cell surface and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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

0.30

LOEUF· LoF intol.

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Mechanism