BRIT1 est un gène codé par le symbole MCPH1. D'autres noms incluent: Microcephalin; MCPH1. BRIT1 a une masse de 92.85kDa, une longueur d'acide aminé de 835, et est impliqué dans Microcephaly 1, primary, autosomal recessive.
Nous proposons 6 des anticorps contre BRIT1, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Expressed in fetal brain, liver and kidney.
Implication dans la maladie
Microcephaly 1, primary, autosomal recessive: 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.
Localisation cellulaire
Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome.
