Contactin 4
Lua error in Module:Infobox_gene at line 53: 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
[edit | edit source]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
[edit | edit source]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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External links
[edit | edit source]- Human CNTN4 genome location and CNTN4 gene details page in the UCSC Genome Browser.
Further reading
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