DCC ist ein Gen, das durch das Symbol DCC kodiert wird. Andere Namen sind: Netrin receptor Colorectal cancer suppressor; Immunoglobulin superfamily DCC subclass member 1; Tumor suppressor protein IGDCC1. DCC hat eine Masse von 158.46kDa, eine Aminosäurelänge von 1447, und ist an folgenden Krankheiten beteiligt: Mirror movements 1; Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma.
Gewebespezifität
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.
Rolle bei Krankheiten
Mirror movements 1: 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.
Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development: An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis.
Sequenzähnlichkeiten
Belongs to the immunoglobulin superfamily. DCC family.
Posttranslationale Modifikation
Ubiquitinated; mediated by SIAH1 or SIAH2 and leading to its subsequent proteasomal degradation.