This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010].
Venkatesh, Nagashri, Swamy, Mohiyuddin, Gopinath, Kumar: "Primary microcephaly gene MCPH1 shows signatures of tumor suppressors and is regulated by miR-27a in oral squamous cell carcinoma." in: PLoS ONE, Vol. 8, Issue 3, pp. e54643, (2013) (PubMed).
Richardson, Shaaban, Kamal, Alisary, Walker, Ellis, Speirs, Green, Bell: "Microcephalin is a new novel prognostic indicator in breast cancer associated with BRCA1 inactivation." in: Breast cancer research and treatment, Vol. 127, Issue 3, pp. 639-48, (2011) (PubMed).