Entrez 1911 | Ensembl ENSG00000111752 | |
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Aliases PHC1, EDR1, HPH1, MCPH11, RAE28, polyhomeotic homolog 1 External IDs MGI: 103248 HomoloGene: 107079 GeneCards: PHC1 |
Function
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 BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 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 this gene and the EDR2 protein.
Mutations in this gene have been associated to cases of primary microcephaly (doi: 10.1093/hmg/ddt072).
Interactions
References
PHC1 Wikipedia(Text) CC BY-SA