LRRC7

Chr 1

leucine rich repeat containing 7

Also known as: DENSIN, MRD77

NCBI Gene: 57554 ENSG00000033122 UniProt: Q96NW7

The LRRC7 protein is required for normal synaptic spine architecture and function, and is necessary for proper localization of DISC1 and GRM5 to postsynaptic density complexes and for both NMDA receptor-dependent and metabotropic glutamate receptor-dependent long term depression. Mutations cause autosomal dominant intellectual developmental disorder. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.157), indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable protein kinase binding activity. Predicted to be involved in several processes, including establishment or maintenance of epithelial cell apical/basal polarity; positive regulation of neuron projection development; and protein localization to membrane. Located in several cellular components, including centrosome; cytosol; and nucleoplasm. Implicated in cocaine dependence. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, autosomal dominant 77

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

0.16

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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