The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
This gene encodes a member of the contactin family of proteins, part of the immunoglobulin superfamily of cell adhesion molecules. The encoded glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein plays a role in the proliferation, migration, and axon guidance of neurons of the developing cerebellum. A mutation in this gene may be associated with adult myoclonic epilepsy. [provided by RefSeq, Sep 2016]
In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion.
From NCBI Gene:
- Epilepsy, familial adult myoclonic, 5
Epilepsy, familial adult myoclonic, 5 (FAME5): A form of cortical myoclonic tremor with epilepsy, a syndrome characterized by cortical myoclonus and variable occurrence of epileptic seizures. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom; both complex partial as well as generalized tonic clonic seizures are described. Some patients exhibit mild cognitive impairment. [MIM:615400]
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
- HGNC Gene Family: Fibronectin type III domain containing
- HGNC Gene Family: I-set domain containing
- HGNC Gene Family: Ig-like cell adhesion molecule family
- HGNC Gene Family: Immunoglobulin like domain containing
- HGNC Gene Symbol Report
- Monarch Initiative
- NCBI Gene