Editing CDH8

'''CDH8''' or '''Cadherin 8''' is a protein that in humans is encoded by the CDH8 gene. Cadherins are calcium-dependent cell-cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH8 is thought to play an important role in brain development and function.

== Function ==
CDH8 is a type II classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent cell-cell adhesion glycoprotein composed of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed in brain and is putatively involved in synaptic adhesion, axon outgrowth and guidance.

== Clinical significance ==
Mutations in the CDH8 gene have been associated with [[Autism Spectrum Disorder]] (ASD). A study published in 2014 found that rare, probably gene-disrupting (pD) variation in CDH8 is associated with a high risk for ASD. The study also found that the CDH8 gene is expressed in the developing human brain, particularly in regions involved in language and cognition.

== See also ==
* [[Cadherin]]
* [[Autism Spectrum Disorder]]

== References ==
<references />

== External links ==
* [https://www.ncbi.nlm.nih.gov/gene/1008 NCBI Gene]
* [https://www.uniprot.org/uniprot/P55287 UniProt]

[[Category:Genes]]
[[Category:Proteins]]
[[Category:Medical genetics]]
[[Category:Neuroscience]]

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