DCHS1 (Dachsous Cadherin-Related 1)

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Dachsous Cadherin-Related 1 (DCHS1), also called protocadherin 16 (PCDH16), is a transmembrane cell-cell adhesion protein expressed in fibroblasts. Mutations in DCHS1 have recently been shown to cause Van Maldergem syndrome, an autosomal recessive disorder characterized by distinctive facial characteristics, skeletal anomalies, digit contractures, and intellectual disability. DCHS1 has 2 protein affecting nucleotide changes that became fixed after the split with Neandertal. These changes may have contributed to anatomical differences between Neandertal and modern humans.

Genetics Topic Attributes


  1. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development, Cappello, S., Gray M. J., Badouel C., Lange S., Einsiedler M., Srour M., Chitayat D., Hamdan F. F., Jenkins Z. A., Morgan T., et al. , Nat Genet, 11/2013, Volume 45, Issue 11, p.1300 - 1308, (2013)
  2. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance., Mansour, S., Swinkels M., Terhal P. A., Wilson L. C., Rich P., Van Maldergem L., Zwijnenburg P. J. G., Hall C. M., Robertson S. P., and Newbury-Ecob R. , Eur J Hum Genet, 10/2012, Volume 20, Issue 10, p.1024-31, (2012)
  3. A draft sequence of the Neandertal genome., Green, Richard E., Krause Johannes, Briggs Adrian W., Maricic Tomislav, Stenzel Udo, Kircher Martin, Patterson Nick, Li Heng, Zhai Weiwei, Fritz Markus Hsi- Yang, et al. , Science, 2010 May 7, Volume 328, Issue 5979, p.710-22, (2010)