What is the purpose of Neurexin?

Neurexins act predominantly at the presynaptic terminal in neurons and play essential roles in neurotransmission and differentiation of synapses. Some of these functions require the formation of trans-synaptic complexes with postsynaptic proteins such as neuroligins, LRRTM proteins or cerebellin.

Where is Neurexin 1 located?

Neurexins (NRXN) are a family of presynaptic cell adhesion proteins that have roles in connecting neurons at the synapse. They are located mostly on the presynaptic membrane and contain a single transmembrane domain.

Is Neurexin a protein?

Neurexins are cell adhesion molecules (CAMs), a group of proteins that mediate cell–cell interactions in the nervous system, which are key for synapse formation and maintenance.

What is NRXN1 deletion?

2p16.3 (NRXN1) deletions. A 2p16. 3 deletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 2. For healthy development, chromosomes should contain just the right amount of material – not too much and not too little.

What kind of protein is a neurexin protein?

This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system.

What are the deletions in the neurexin gene?

Deletions ranged from 74 to 702 kb and consisted mostly of either exons 1-3 or 1-5. Speech sound disorders were frequent (69%), although few were severe. The neurexins are a family of synaptic adhesion proteins encoded by paralogous genes that play key roles in synaptic function.

What kind of protein is the NRXN1 gene?

This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca (2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system.

Which is ultra rare variant of the neurexin 1alpha gene?

GeneRIFs: Gene References Into Functions. the ultra-rare structural variants of the neurexin 1alpha gene are consistent with mutations predisposing to autism. NRXN1 gene represents a strong candidate for involvement in the etiology of nicotine dependence. Observational study of gene-disease association.