MCPH1 Antibody – Rabbit

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]

MCPH1: a DNA damage responsive protein and transcriptional repressor of human telomere reverse transcriptase. An early responder to DNA damage. Required for double strand break repair via homologous recombination and nonhomologous end joining. Promotes chromatin relaxation by recruiting and maintaining the chromatin remodeling SWI-SNF complex at sites of DNA double strand breakage. Participates in the ATR/Chk1-mediated DNA checkpoint in humans and transcriptionally regulates BRCA1 and Chk1. Plays a role in neurogenesis and regulation of the size of the cerebral cortex. Mutations of MCPH1 can cause microcephaly in humans and appears to play an evolutionarily conserved role in brain development. Alterations have been identified in breast, ovarian and prostate cancer. Appears to coordinate S-M transitions in fly embryos.

Protein type: Cell cycle regulation

Chromosomal Location of Human Ortholog: 8p23.1

Cellular Component: nucleoplasm; cytoplasm; microtubule organizing center

Molecular Function: identical protein binding; protein binding

Biological Process: mitotic cell cycle; cerebral cortex development

Disease: Microcephaly 1, Primary, Autosomal Recessive