Molecular characteristics

GINS subcomplex is necessary for DNA replication and cell viability since it is essential for helicase activity. In fact, during replication, helicase unwinds the DNA double helix. Variants in GINS3 leads to impaired cell and organismal growth. In mice, homozygous deletion of GINS3 cause embryonic death.

Individuals with variants in GINS3 and MG-like syndrome were compound heterozygous or homozygous for variants in GINS3. Most variants were de novo.