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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LRRTM3
leucine rich repeat transmembrane neuronal 3
Chromosome 10 · 10q21.3
NCBI Gene: 347731Ensembl: ENSG00000198739.11HGNC: HGNC:19410UniProt: Q86VH5
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
glutamatergic synapseregulation of presynapse assemblypositive regulation of amyloid-beta formationsignaling receptor activityAbruptio Placentaeessential tremoradolescent idiopathic scoliosisliver disease
✦AI Summary

LRRTM3 (leucine rich repeat transmembrane neuronal 3) is a synaptic adhesion protein that plays a critical role in amyloid-beta (Aβ) production and Alzheimer's disease pathogenesis. The protein promotes amyloid precursor protein (APP) processing by BACE1, with siRNA knockdown reducing Aβ40, Aβ42, and sAPPβ secretion by up to 60% in cultured cells and primary neurons 1. LRRTM3 co-localizes and co-immunoprecipitates with both APP and BACE1 in early endosomes, where BACE1 processing of APP occurs 2. The protein is expressed nearly exclusively in nervous system regions affected in Alzheimer's disease, including the dentate gyrus 1. LRRTM3 maps to chromosome 10 at a linkage peak associated with late-onset Alzheimer's disease (LOAD) risk and elevated plasma Aβ42 levels 1. Genetic association studies have identified significant multilocus genotypes within LRRTM3's 5'UTR-Intron 1 region associated with LOAD risk 2. However, LRRTM3-deficient mice show no differences in Aβ levels or APP processing compared to wild-type mice, suggesting the protein may not be essential for Aβ production in vivo 3. Beyond Alzheimer's disease, LRRTM3 has been implicated in sarcopenia through large-scale Mendelian randomization studies 4.

Sources cited
1
LRRTM3 promotes APP processing by BACE1 and reduces Aβ secretion when knocked down
PMID: 17098871
2
LRRTM3 co-localizes with APP and BACE1 in early endosomes and has genetic variants associated with LOAD
PMID: 23750206
3
LRRTM3 is expressed in nervous system regions affected in AD and maps to chromosome 10 LOAD linkage peak
PMID: 17098871
4
LRRTM3-deficient mice show no differences in Aβ production compared to wild-type mice
PMID: 22710909
5
LRRTM3 is implicated in sarcopenia through Mendelian randomization studies
PMID: 40009978
Disease Associationsⓘ20
Abruptio PlacentaeOpen Targets
0.31Weak
essential tremorOpen Targets
0.29Weak
adolescent idiopathic scoliosisOpen Targets
0.28Weak
liver diseaseOpen Targets
0.26Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
smoking initiationOpen Targets
0.20Weak
brain injuryOpen Targets
0.17Weak
cataractOpen Targets
0.16Weak
brain cancerOpen Targets
0.15Weak
placenta praeviaOpen Targets
0.15Weak
metabolic syndromeOpen Targets
0.15Weak
preeclampsiaOpen Targets
0.15Weak
brain compressionOpen Targets
0.14Weak
edemaOpen Targets
0.14Weak
fungal infectious diseaseOpen Targets
0.14Weak
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.12Weak
familial isolated arrhythmogenic right ventricular dysplasiaOpen Targets
0.12Weak
diabetes mellitusOpen Targets
0.11Weak
HypocalcemiaOpen Targets
0.11Weak
mental or behavioural disorderOpen Targets
0.11Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTNNA3Protein interaction91%NRXN1Protein interaction91%NRXN2Protein interaction91%B3GNT3Protein interaction88%NRXN3Protein interaction82%GPC1Protein interaction77%
Tissue Expression6 tissues
Brain
100%
Ovary
19%
Bone Marrow
1%
Liver
1%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
LRRTM3CTNNA3NRXN1NRXN2B3GNT3NRXN3GPC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q86VH5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.51 [0.37–0.72]
RankingsWhere LRRTM3 stands among ~20K protein-coding genes
  • #14,732of 20,598
    Most Researched18
  • #5,574of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedLRRTM3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
1.00
2
LRRTM3 promotes processing of amyloid-precursor protein by BACE1 and is a positional candidate gene for late-onset Alzheimer's disease.
PMID: 17098871
Proc Natl Acad Sci U S A · 2006
0.90
3
LRRTM3 interacts with APP and BACE1 and has variants associating with late-onset Alzheimer's disease (LOAD).
PMID: 23750206
PLoS One · 2013
0.80
4
Origin and loss of nested LRRTM/α-catenin genes during vertebrate evolution.
PMID: 24587117
PLoS One · 2014
0.70
5
Comparative gene expression analysis of the human periodontal ligament in deciduous and permanent teeth.
PMID: 23593441
PLoS One · 2013
0.60