LINGO1
Domain
The intracellular domain of LINGO1 interacts with MYT1L.
Function
Functional component of the Nogo receptor signaling complex (RTN4R/NGFR) in RhoA activation responsible for some inhibition of axonal regeneration by myelin-associated factors (PubMed:14966521, PubMed:15694321). Is also an important negative regulator of oligodentrocyte differentiation and axonal myelination (PubMed:15895088). Acts in conjunction with RTN4 and RTN4R in regulating neuronal precursor cell motility during cortical development (By similarity).
Involvement in disease
Intellectual developmental disorder, autosomal recessive 64
MRT64
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT64 patients have moderate to severe intellectual disability, delayed motor development, aggressive behavior, and slurred or absent speech.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated. Contains predominantly high-mannose glycans.
Tissue Specificity
Expressed exclusively in the central nervous system. Highest level in the in amygdala, hippocampus, thalamus and cerebral cortex. In the rest of the brain a basal expression seems to be always present. Up-regulated in substantia nigra neurons from Parkinson disease patients.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
Alternative names
LERN1, LRRN6A, UNQ201/PRO227, LINGO1, Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1, Leucine-rich repeat and immunoglobulin domain-containing protein 1, Leucine-rich repeat neuronal protein 1, Leucine-rich repeat neuronal protein 6A