| Property |
Value |
| Gene Symbol |
LRRTM1 |
| Full Name |
Leucine-Rich Repeat Transmembrane Neuronal 1 |
| Chr Location |
2p14 |
| NCBI Gene ID |
26017 |
| OMIM ID |
610867 |
| Ensembl ID |
ENSG00000162908 |
| UniProt ID |
Q9UHV9 |
| Encoded Protein |
LRRTM1 |
| Associated Diseases |
Schizophrenia, Parkinson's disease, Alzheimer's disease |
LRRTM1 (Leucine-Rich Repeat Transmembrane Neuronal 1) is a member of the LRRTM family of synaptic adhesion molecules that play critical roles in excitatory synapse formation, function, and maintenance. Located on chromosome 2p14, LRRTM1 encodes a single-pass transmembrane protein that localizes to postsynaptic densities and induces presynaptic differentiation. The gene has been implicated in several neurological disorders, including schizophrenia, Parkinson's disease, and Alzheimer's disease, making it a potential therapeutic target for neurodegenerative and psychiatric conditions.
LRRTM1 encodes leucine-rich repeat transmembrane neuronal 1, a member of the LRRTM family of synaptic adhesion molecules. LRRTM1 plays critical roles in excitatory synapse formation, function, and maintenance.
Key normal physiological functions include:
- Synapse formation - Induces presynaptic differentiation
- Excitatory synapse organization - Localizes to postsynaptic densities
- Glutamatergic signaling - Regulates AMPA and NMDA receptor function
- Learning and memory - Involved in synaptic plasticity
- Axonal guidance - Regulates neuronal connectivity
- Dendritic spine morphogenesis - Controls spine shape and density
The protein structure:
- N-terminal signal peptide - Secretory pathway
- Leucine-rich repeats (LRR) - Protein-protein interactions
- Transmembrane domain - Single pass membrane
- C-terminal cytoplasmic tail - Intracellular signaling
- LRRTM1 is associated with schizophrenia susceptibility
- Implicated in neurodevelopmental theories of schizophrenia
- Altered expression in schizophrenic brains
- Genetic variants associated with PD risk
- Synaptic dysfunction in PD models
- Potential therapeutic target
- Altered expression in AD brains
- Synaptic loss is early feature of AD
- LRRTM1 may modulate amyloid toxicity
LRRTM1 is expressed in the brain:
- Highest expression: Cortex, hippocampus, basal ganglia
- Moderate expression: Cerebellum, thalamus
- Cellular localization: Postsynaptic membranes
- Cell types: Excitatory neurons
The Allen Brain Atlas shows high LRRTM1 expression in:
- Cortical pyramidal neurons (layers 2-6)
- Hippocampal CA1 pyramidal cells
- Striatal medium spiny neurons
- Linhoff et al., LRRTM1 is a synaptic organizer (2009)
- Francesconi et al., LRRTM1 and synaptic function (2009)
- Lin et al., LRRTM1 in schizophrenia (2011)
- Linhoff et al., LRRTM1 is a synaptic organizer (2009)
- Francesconi et al., LRRTM1 and synaptic function (2009)
- Lin et al., LRRTM1 in schizophrenia (2011)