CNTN4

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Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.[1][2][3]

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.[3]

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.[4] It has also been associated with cerebellar degeneration in spinocerebellar ataxia type 16.

References

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Further reading

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  4. http://www.newsdaily.com/stories/n18220544-autism-genes/