MCPH1

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]

Full Name

MCPH1

Function

Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.

Biological Process

Bone development Source: Ensembl
Cerebral cortex development Source: Ensembl
Establishment of mitotic spindle orientation Source: Ensembl
Mitotic cell cycle Source: GO_Central
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Neuronal stem cell population maintenance Source: Ensembl
Protein localization to centrosome Source: Ensembl
Regulation of centrosome cycle Source: Ensembl
Regulation of chromosome condensation Source: Ensembl
Regulation of inflammatory response Source: Ensembl
Regulation of kinase activity Source: Ensembl

Cellular Location

Centrosome

Involvement in disease

Microcephaly 1, primary, autosomal recessive (MCPH1):
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. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.