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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],disease:Defects in MCPH1 are a cause of premature chromosome condensation with microcephaly and mental retardation (PCC syndrome) [MIM:606858]. PCC syndrome is a disorder of microcephaly, short stature and misregulated chromosome condensation. Patients with this condition have a high number (10%-15%) of prophase-like cells in routine cytogenetic preparations and have poor-quality metaphase G-banding.,disease:Defects in MCPH1 are the cause of microcephaly primary type 1 (MCPH1) [MIM:251200]; also known as true microcephaly or microcephaly vera. Microcephaly is 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. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. This entity is inherited as autosomal recessive trait.,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.,miscellaneous:MCPH1 deficient cells exhibit a delay in post-mitotic chromosome decondensation.,online information:A grey matter - Issue 64 of November 2005,similarity:Contains 3 BRCT domains.,tissue specificity:Expressed in fetal brain, liver and kidney.,
研究领域
Epigenetics and Nuclear Signaling; DNA / RNA; DNA Damage & Repair; DNA Damage Response; BRCT Domain Proteins
