BRIT1 ist ein Gen, das durch das Symbol MCPH1 kodiert wird. Andere Namen sind: Microcephalin; MCPH1. BRIT1 hat eine Masse von 92.85kDa, eine Aminosäurelänge von 835, und ist an Microcephaly 1, primary, autosomal recessive beteiligt.
Wir bieten 6 antikörper gegen BRIT1, aufgewachsen in Kaninchen, welche geeignet sind für WB, IHC and ELISA mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in fetal brain, liver and kidney.
Rolle bei Krankheiten
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.
Zellort
Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome.
