ADAM22
Function
Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein (PubMed:19692335). Involved in regulation of cell adhesion and spreading and in inhibition of cell proliferation. Neuronal receptor for LGI1.
Involvement in disease
Developmental and epileptic encephalopathy 61
DEE61
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE61 is an autosomal recessive condition characterized by onset of seizures in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
The precursor is cleaved by a furin endopeptidase.
Tissue Specificity
Highly expressed in the brain and in some high-grade but not low-grade gliomas. Detected slightly or not at all in other tissues.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell projection
- Axon
Alternative names
MDC2, ADAM22, Disintegrin and metalloproteinase domain-containing protein 22, ADAM 22, Metalloproteinase-disintegrin ADAM22-3