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Symbol MCPH1 contributors: mct/pgu/shn - updated : 20-06-2013
HGNC name microcephalin 1
HGNC id 6954
corresponding disease(s) MCPH1
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   LOH    
in breast cancer
tumoral     --low  
in carcinomas
lack of MCPH1 or PCNT results in a loss of CHEK1 from centrosomes with subsequently deregulated activation of centrosomal cyclin B-CDK1
  • to high cranial volume in Chinese males
  • to autism spectrum disorder (ASD)
  • to Alzheimer disease (AD)
  • MCPH1 polymorphisms are risk of breast cancer
  • predisposition to otitis media
  • Variant & Polymorphism SNP , other
  • significantly associated with high cranial volume in Chinese males
  • changes in copy number of MCPH1 is a susceptibility factor for ASD in the distal short arm of chromosome 8
  • G allele of rs2442607 in microcephalin 1 was associated with an increased risk of AD
  • Candidate gene
    Therapy target
  • When BRIT1 expression is depleted, cells lose the ionizing radiation (IR)-induced cell cycle arrest and become IR sensitive
  • MCPH1-mutant cell lines show defective G2-M checkpoint arrest and nuclear fragmentation after DNA damage, and contain supernumerary mitotic centrosomes
  • Depletion of BRIT1 increased the accumulation of chromosomal aberrations
  • BRIT1(-/-) mice and mouse embryonic fibroblasts (MEFs) are hypersensitive to gamma-irradiation, BRIT1(-/-) MEFs and T lymphocytes exhibit severe chromatid breaks and reduced RAD51 foci formation after irradiation, and BRIT1(-/-) mice are infertile and meiotic homologous recombination is impaired
  • BRIT1-deficient spermatocytes exhibited a failure of chromosomal synapsis, and meiosis was arrested at late zygotene of prophase I accompanied by apoptosis. I
  • Mcph1 disruption in mice results in primary microcephaly
  • MCPH1-deficiency abrogates the localization of Chk1 to centrosomes, causing premature Cdk1 activation and early mitotic entry, which uncouples mitosis and the centrosome cycle
  • Mcph1-deficient (Mcph1(tm1a) (/tm1a) ) mice had mild to moderate hearing impairment (otitis media), small skull sizes, increased micronuclei in red blood cells, increased B cells and ocular abnormalities
  • deletion of Mcph1 results in a specific reduction of the mouse cerebral cortex at birth, which is persistent through life
  • Ionizing radiation induces a massive apoptosis in the Mcph1-null mouse neocortex and also embryonic lethality