Contactin 4
Protein found in humans
From Wikipedia, the free encyclopedia
Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.[5][6][7]
| CNTN4 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | CNTN4, AXCAM, BIG-2, contactin 4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607280; MGI: 1095737; HomoloGene: 14257; GeneCards: CNTN4; OMA:CNTN4 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[7]
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.[8] It has also been associated with cerebellar degeneration in spinocerebellar ataxia type 16.