Wikipedia / PHC1
Wikipedia / PHC1
Polyhomeotic-like protein 1 is a protein that in humans is encoded by the PHC1 gene.
Structure
This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMI1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share two highly conserved domains, named homology domains I and II. These domains are involved in protein–protein interactions and may mediate heterodimerization of the protein encoded by the PHC1 gene and the EDR2 protein.
Function
PHC1 is a component of a polycomb group (PcG) multiprotein PRC1-like complex which represses the expression of many genes, including Hox genes. It is required for proper control of cellular levels of GMNN expression.<ref name = "Awad_2013"/ >
Clinical signficance
Mutations in this gene have been associated to cases of primary microcephaly.
Interactions
PHC1 has been shown to interact with BMI1 and PHC2.