Gene: CNTN1

Alternate names for this Gene: F3|GP135|MYPCN

Gene Summary: 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.

Gene is located in Chromosome: 12

Location in Chromosome : 12q12

Description of this Gene: contactin 1

Type of Gene: protein-coding

rs1555185778 in CNTN1 gene and Myopathy, Congenital, Compton-North PMID 19026398 2008 Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

PMID 22242131 2011 A spontaneous mutation in contactin 1 in the mouse.

rs1442190 in CNTN1 gene and Parkinson Disease PMID 24842889 2014 Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.