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.
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development, , Nat Genet, 11/2013, Volume 45, Issue 11, p.1300 - 1308, (2013)
Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance., , Eur J Hum Genet, 10/2012, Volume 20, Issue 10, p.1024-31, (2012)
A draft sequence of the Neandertal genome., , Science, 2010 May 7, Volume 328, Issue 5979, p.710-22, (2010)