Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
NEDNMS
An autosomal recessive disorder characterized by developmental delay apparent from infancy or early childhood, intellectual disability, hypotonia, peripheral neuropathy, and/or spasticity. Disease severity is highly variable. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, behavioral abnormalities, and non-specific findings on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Detected in all the examined tissues. In the brain it was detected in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.
KIAA0343, NRCAM, Neuronal cell adhesion molecule, Nr-CAM, Neuronal surface protein Bravo, NgCAM-related cell adhesion molecule, hBravo, Ng-CAM-related
Proteins
Neuroscience
143890Da
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ab175366