LRRC7

Chr 1AD

leucine rich repeat containing 7

Also known as: DENSIN, MRD77

NCBI Gene: 57554 ENSG00000033122 UniProt: Q96NW7 OMIM: 614453

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.

OMIM 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; neurotransmitter receptor transport, endosome to postsynaptic membrane; and receptor clustering. Located in cytosol. Implicated in cocaine dependence. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 77MIM #621415

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