CDH8

Source: Wikipedia, the free encyclopedia.
CDH8
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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
View/Edit HumanView/Edit Mouse

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

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000150394Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036510Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. PMID 9615235
    .
  6. .
  7. ^ a b "Entrez Gene: CDH8 cadherin 8, type 2".
  8. PMID 20972252
    .
  9. .

Further reading

External links


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