CNTN1

CNTN1 (Contactin 1) is a Protein Coding gene. Diseases associated with CNTN1 include Myopathy, Congenital, Compton-North and Demyelinating Polyneuropathy. Among its related pathways are L1CAM interactions and Developmental Biology. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is CNTN2.

Full Name

Contactin 1

Function

Contactins mediate cell surface interactions during nervous system development. Involved in the formation of paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1. Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of neurite outgrowth (By similarity).

Biological Process

Cell adhesion Source: ProtInc
Cerebellum development Source: Ensembl
Neuron projection development Source: Ensembl
Notch signaling pathway Source: UniProtKB-KW
Positive regulation of gene expression Source: Ensembl
Positive regulation of neuron projection development Source: Ensembl
Positive regulation of peptidyl-tyrosine phosphorylation Source: Ensembl
Positive regulation of sodium ion transport Source: Ensembl

Cellular Location

Cell membrane

Involvement in disease

Myopathy, congenital, Compton-North (MYPCN):
A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band.