CDH8

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Cadherin-8 is a protein that in humans is encoded by the CDH8 gene.[5][6][7]

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CDH8
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCDH8, Nbla04261, cadherin 8
External IDsOMIM: 603008; MGI: 107434; HomoloGene: 55604; GeneCards: CDH8; OMA:CDH8 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001796

NM_001039154
NM_001285913
NM_001285914
NM_007667

RefSeq (protein)

NP_001787

NP_001034243
NP_001272842
NP_001272843
NP_031693

Location (UCSC)Chr 16: 61.65 – 62.04 MbChr 8: 99.75 – 100.14 Mb
PubMed search[3][4]
Wikidata
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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.[7]

Clinical significance

Disruptions of CDH8 in humans have been implicated in autism.[8][9]

References

Further reading

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