LRRTM4 is a Leucine-rich repeat transmembrane neuronal protein involved in synapse development.
| Property |
Value |
| Protein Name |
LRRTM4 |
| Gene |
LRRTM4 |
| UniProt ID |
Q9HCK5 |
| Molecular Weight |
~68 kDa |
| Subcellular Localization |
Postsynaptic membrane |
| Protein Family |
LRRTM family |
LRRTM4 has the LRRTM family structure with unique insertions in the LRR domain. It contains signal peptide, LRR motifs, transmembrane domain, and cytoplasmic tail.
LRRTM4 is important for specific synaptic circuits:
- Sensory Circuit Development: Critical for auditory and visual processing
- Excitatory Synapse Formation: Promotes postsynaptic differentiation
- Dendritic Spine Development: Controls spine density
- AMPAR Recruitment: Regulates AMPA receptor function
- Genetic variants in ASD
- Social behavior deficits
- Rare variants cause ID
- Synaptic dysfunction
- Boysson et al., LRRTM4 synaptic function (2019)
- Liu et al., LRRTM4 in ASD (2016)
- Pulst et al., SCA2 identification (1996)
- Elden et al., ATXN2 expansions in ALS (2010)
- Bhattacharjee et ATXN2 in RNA metabolism (2011)
- Last et al., Ataxin-2 function and disease (2020)
- Sato et al., ATXN2 in Parkinson's disease (2019)
- Gispert-Sanchez et al., ATXN2 and RNA granules (2015)
- Nonis et al., ATXN2 in diabetes (2022)
- Kumar et al., ATXN2 therapeutic targeting (2021)