Description
Product Characteristics:
Microcephalin modulates brain size and has been proliferating under strong positive selection for several thousand years, although the nature of the positive selection is poorly understood. Human Microcephalin contains three BRCA1 C-terminal (BRCT) domains and shares 57 % identity with its mouse ortholog, the most conserved regions being BRCT domains where there is 80 % identity. Predominant expression of human Microcephalin is observed in fetal brain, liver and kidney tissues and is expressed during neurogenesis in mice. Microcephalin displays significantly higher rates of protein evolution in primates than in rodents, this trend is most noticeable for the subset of genes associated with nervous system development. Microcephalin has a very young, single nucleotide, polymorphism haplotype associated with modern humans, this gene is presumably still evolving in Homo sapiens. It functions in DNA damage response and regulation of cell cycle checkpoints.
Subcellular location: Cytoplasm
Synonyms: BRCT repeat inhibitor of TERT expression 1, BRIT 1, FLJ12847, Hypothetical protein FLJ12847, MCPH 1, MCPH1, MCPH1_HUMAN, MCT antibody Microcephalin 1, Microcephalin-1, Microcephaly primary autosomal recessive 1.
Target Information: 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]