CNTN1 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

CNTN1: 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. Defects in CNTN1 are the cause of Compton-North congenital myopathy (CNCM). CNCM is a familial lethal form of congenital onset muscle weakness, inherited in an autosomal-recessive fashion and characterized by a secondary loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. Belongs to the immunoglobulin superfamily. Contactin family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, GPI anchor; Cell adhesion

Chromosomal Location of Human Ortholog: 12q11-q12

Cellular Component: lipid raft; membrane; myelin sheath; plasma membrane

Molecular Function: carbohydrate binding; glycoprotein binding

Biological Process: cell adhesion; cerebellum development; neurite development; Notch signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation

Disease: Myopathy, Congenital, Compton-north