CNTN4
Description
The CNTN4 (contactin 4) is a protein-coding gene located on chromosome 3.
Contactin-4 is a protein encoded by the CNTN4 gene in humans. It belongs to the immunoglobulin superfamily and is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein functioning as a cell adhesion molecule. This protein may play a role in the formation of axon connections during nervous system development. Several alternatively spliced transcript variants of this gene have been described, although the full-length nature of some of these variants remains undetermined. The CNTN4 gene is located on the short arm of chromosome 3 (3p26.3) and is a single copy gene within the Watson (plus) strand. It spans 957,399 bases and encodes a protein of 1026 amino acids (molecular weight 113.454 kDa). Abnormal expression of this gene has been implicated in some cases of autism and associated with cerebellar degeneration in spinocerebellar ataxia type 16.
CNTN4 is also known as AXCAM, BIG-2.
