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Characterization of the effects of MCPH1 loss-of-function on chromosome morphology.
Results show that in addition to the scaffolding function in complex formation, BRUCE has an E3 ligase function to promote BRIT1 deubiquitination by USP8 (show USP8 Proteins) leading to accumulation of BRIT1 at DNA double-strand break.
Data indicate splice-acceptor site homozygous mutation in intron 4 of microcephalin (MCPH1) gene in 2 children.
in addition to its role in brain development, MCPH1 also functions as a tumor suppressor gene and is directly regulated by miR (show MLXIP Proteins)-27a.
BRUCE acts as a scaffold, bridging the ubiquitin-specific peptidase 8 (USP8 (show USP8 Proteins)) and BRIT1 in a complex to coordinate USP8 (show USP8 Proteins)-catalyzed deubiquitination of BRIT1.
SNTB1 (show SNTB1 Proteins) and MCPH1 are located on chromosome 8, which may be involved in neuroticism, avoidant personality and depression.
Phosphorylation of BRIT1 protein coordinates TopBP1 protein recruitment and amplifies ATR signaling in cell DNA damage.
MCPH1 has an important role in regulating cell growth through regulating the cell cycle and apoptosis
This study identified MCPH1 significantly associated loci with a biologically plausible role in schizophrenia.
microcephalin and ASPM expression are deregulated in epithelial ovarian cancer progression
sequence comparison of vertebrate species suggested that the identified E2F1 (show E2F1 Proteins) binding motif is primate specific, consistent with the previous observation of rapid evolution of MCPH1 protein sequence in primates
MCPH1 is a bona fide tumor suppressor gene.
Mcph1-deficient mice reveal a role for MCPH1 in otitis media. Expression of Mcph1 in the epithelial cells of middle ear cavities supported its involvement in the development of otitis media.
MCPH1, through its function in the Chk1 (show CHEK1 Proteins)-Cdc25 (show CDC25C Proteins)-Cdk1 (show CDK1 Proteins) pathway to couple the centrosome cycle with mitosis, is required for precise mitotic spindle orientation and thereby regulates the progenitor division mode to maintain brain size.
VIP (show Vip Proteins) blockade induces microcephaly through Mcph1 signaling; VIP (show Vip Proteins)/Mcph1/Chk1 (show CHEK1 Proteins) signaling is key for normal cortical development
SET is an important regulator of chromosome condensation (show RCC1 Proteins)/decondensation and disruption of the MCPH1-SET interaction might be important for the pathogenesis of primary microcephaly
Data did not show clear signs of premature malignant disease development due to the perturbed Mcph1 function.
Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation
MCPH1 is essential for mitotic and meiotic recombination DNA repair and maintaining genomic stability.
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.
microcephaly, primary autosomal recessive 1
, microcephalin 1
, BRCT-repeat inhibitor of TERT expression 1