PHC1
From Ganfyd
Web Resources for PHC1
Other Names
EDR1, PH1
Genetic Databases
Relevant Clinical Literature
UK Guidance
Other Wikis
Wikipedia on PHC1 (Less technical, ? quality control)
The PHC1 gene at 12p13.31 codes for the 1004 amino acid pro-peptide to polyhomeotic-like protein 1. This is a component of a polycomb group (PcG) multiprotein PRC1-like complex, which is required to maintain the transcriptionally repressive state of many genes during development. These PcG PRC1 complexes act via chromatin remodeling and modification of histones with the monoubiquitination of histone H2A.
Dysfunctional variants cause autosomal recessive primary microcephaly (MCPH11, microcephaly 11, OMIM:615414)
