Species Human Entrez 152330 | Human Mouse Ensembl ENSG00000144619 | |
Aliases CNTN4, AXCAM, BIG-2, contactin 4 External IDs MGI: 1095737 HomoloGene: 14257 GeneCards: CNTN4 | ||
Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.
Contents
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. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.
Genomics
The gene is located on the short arm of chromosome 3 (3p26.3). It is a single copy gene within the Watson (plus) strand, 957,399 bases in length and encodes a protein of 1026 amino acids (molecular weight 113.454 kDa)
Clinical relevance
Abnormal expression of this gene has been implicated in some cases of autism. It has also been associated with cerebellar degeneration in spinocerebellar ataxia type 16.