Microcephalin 1 (MCPH1)

Microcephalin 1 (MCPH1) is a multifunctional, evolutionarily conserved protein encoded by the MCPH1 gene on chromosome 8p23.1. The canonical full-length protein contains 835 amino acids and includes three BRCT (BRCA1 C-Terminal) domains, key for protein-protein interactions in DNA repair, cell cycle checkpoints, and chromatin remodeling. MCPH1 plays a central role in regulating chromosome condensation during the G2/M phase transition, facilitating DNA repair via interaction with multiple DNA repair proteins, and is involved in the control of centrosome and spindle function during mitosis. Loss-of-function mutations in MCPH1 cause autosomal recessive primary microcephaly, characterized by severely reduced brain size and intellectual disability. Additionally, MCPH1 acts as a tumor suppressor and is implicated in the maintenance of genome integrity. No drugs are known to directly interact with MCPH1, and it is not currently considered a therapeutic target.

Other names

MicrocephalinBRIT1BRCT-repeat inhibitor of TERT expression 1MCTFLJ12847

Not applicable; no direct drug mechanisms established for this protein