DCHS1 (Dachsous Cadherin-Related 1)

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.