DISEASES

Disease-gene associations mined from literature

MCM2 disease associations

MCM2 [ENSP00000265056]

DNA replication licensing factor MCM2; Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. Required for the entry in S phase and for cell division. Plays a role in terminally differentiated hair cells development of the cochlea and induces cells apoptosis.

Synonyms:  MCM2,  MCM2p,  hMCM2,  C9J013,  C9JZ21 ...

Linkouts:  STRING  Pharos  UniProt  OMIM