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

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External links

• NCBI Gene
• UniProt