LRRC4C

Chr 11

leucine rich repeat containing 4C

Also known as: NGL-1, NGL1

NCBI Gene: 57689 ENSG00000148948 UniProt: Q9HCJ2 OMIM: 608817

The LRRC4C protein (NGL1) binds specifically to netrin G1 and promotes neurite outgrowth of developing thalamic neurons. Mutations in this highly constrained gene cause neurodevelopmental disorders with autosomal recessive inheritance. The gene shows extremely high constraint against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]

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

0.31

LOEUF· LoF intol.

Multiple*

Mechanism· predicted