LRIG1

Chr 3

leucine rich repeats and immunoglobulin like domains 1

Also known as: LIG-1, LIG1

NCBI Gene: 26018 ENSG00000144749 UniProt: Q96JA1

LRIG1 encodes a transmembrane protein that negatively regulates receptor tyrosine kinase signaling by promoting receptor ubiquitination and degradation. Mutations cause autosomal recessive urofacial syndrome, characterized by congenital bladder dysfunction and distinctive facial features. This gene is highly constrained against loss-of-function variants (LOEUF 0.43), indicating that complete loss of function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

Predicted to enable signaling receptor activity. Predicted to be involved in sensory perception of sound. Predicted to act upstream of or within hair cycle process; innervation; and otolith morphogenesis. Predicted to be active in 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

—

P/LP missense

0.43

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429