This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. 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.[3]
Clinical significance
Disruptions of CDH8 in humans have been implicated in autism.[4][5]
References
↑Kremmidiotis G, Baker E, Crawford J, Eyre HJ, Nahmias J, Callen DF (May 1998). "Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity". Genomics. 49 (3): 467–71. doi:10.1006/geno.1998.5281. PMID9615235.
Tanihara H, Sano K, Heimark RL, St John T, Suzuki S (Apr 1994). "Cloning of five human cadherins clarifies characteristic features of cadherin extracellular domain and provides further evidence for two structurally different types of cadherin". Cell Adhesion and Communication. 2 (1): 15–26. doi:10.3109/15419069409014199. PMID7982033.
Kido M, Obata S, Tanihara H, Rochelle JM, Seldin MF, Taketani S, Suzuki ST (Mar 1998). "Molecular properties and chromosomal location of cadherin-8". Genomics. 48 (2): 186–94. doi:10.1006/geno.1997.5152. PMID9521872.
Blaschke S, Mueller CA, Markovic-Lipkovski J, Puch S, Miosge N, Becker V, Mueller GA, Klein G (Oct 2002). "Expression of cadherin-8 in renal cell carcinoma and fetal kidney". International Journal of Cancer. 101 (4): 327–34. doi:10.1002/ijc.10623. PMID12209956.
