PHC1
Function
Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression.
Involvement in disease
Microcephaly 11, primary, autosomal recessive
MCPH11
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
EDR1, PH1, PHC1, Polyhomeotic-like protein 1, hPH1, Early development regulatory protein 1