DCC
Function
Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene.
Involvement in disease
Mirror movements 1
MRMV1
A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. Some MRMV1 patients have agenesis of the corpus callosum.
None
The disease is caused by variants affecting the gene represented in this entry.
Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development
HGPPS2
An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation.
Sequence Similarities
Belongs to the immunoglobulin superfamily. DCC family.
Tissue Specificity
Found in axons of the central and peripheral nervous system and in differentiated cell types of the intestine. Not expressed in colorectal tumor cells that lost their capacity to differentiate into mucus producing cells.
Cellular localization
- Membrane
- Single-pass type I membrane protein
Alternative names
IGDCC1, DCC, Netrin receptor DCC, Colorectal cancer suppressor, Immunoglobulin superfamily DCC subclass member 1, Tumor suppressor protein DCC