CDH8

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
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RefSeq (mRNA)

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RefSeq (protein)

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Cadherin-8 is a protein that in humans is encoded by the CDH8 gene.[1][2][3]

Function

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

  1. 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. PMID 9615235.
  2. Suzuki S, Sano K, Tanihara H (Apr 1991). "Diversity of the cadherin family: evidence for eight new cadherins in nervous tissue". Cell Regulation. 2 (4): 261–70. doi:10.1091/mbc.2.4.261. PMC 361775. PMID 2059658.
  3. 3.0 3.1 "Entrez Gene: CDH8 cadherin 8, type 2".
  4. Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, et al. (Jan 2011). "Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability". Journal of Medical Genetics. 48 (1): 48–54. doi:10.1136/jmg.2010.079426. PMC 3003876. PMID 20972252.
  5. Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, et al. (2016). "Frequency and Complexity of De Novo Structural Mutation in Autism". The American Journal of Human Genetics. 98 (4): 1–13. doi:10.1016/j.ajhg.2016.02.018. PMC 4833290. PMID 27018473.

Further reading

External links



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