background:
The leucine-rich (LRR) repeat is a 20-30 amino acid motif that forms a hydrophobic Alpha/Beta horseshoe fold, allowing it to accommodate several leucine residues within a tightly packed core. All LRR repeats contain a variable segment and a highly conserved segment, the latter of which accounts for 11 or 12 residues of the entire LRR motif. LRRTM1 (leucine rich repeat transmembrane neuronal 1) is a 522 amino acid single-pass type I membrane protein that localizes to the endoplasmic reticulum and contains ten LRR repeats. Expressed predominately in forebrain tissue, LRRTM1 is thought to be involved in the development of forebrain structures, specifically by influencing axon trafficking, as well as neuronal differentiation and connectivity. Human LRRTM1 shares 96% amino acid identity with its mouse counterpart, suggesting a conserved role between species. Defects in the gene encoding LRRTM1 may be associated with the pathogenesis of several common neurodevelopmental disorders.
Function:
May play a role during the development of specific forebrain structures by influencing neuronal differentiation and connectivity, with a possible role in intracellular trafficking within axons.
Subcellular Location:
Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein (By similarity).
Tissue Specificity:
Predominantly expression in forebrain regions including thalamus and cerebral cortex.
Similarity:
Belongs to the LRRTM family.
Contains 10 LRR (leucine-rich) repeats.
Contains 1 LRRCT domain.
Contains 1 LRRNT domain.
Database links:
Entrez Gene: 347730 Human
Entrez Gene: 74342 Mouse
Omim: 610867 Human
SwissProt: Q86UE6 Human
SwissProt: Q8K377 Mouse
Unigene: 59316 Human
Unigene: 292568 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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