GINS3

Chr 16AR

GINS complex subunit 3

Also known as: MGORS9, PSF3

NCBI Gene: 64785 ENSG00000181938 UniProt: Q9BRX5 OMIM: 610610

The protein is a subunit of the GINS heterotetrameric complex, which is essential for DNA replication initiation and replisome progression by functioning as a core component of the CDC45-MCM-GINS helicase that unwinds template DNA during replication. Mutations cause Meier-Gorlin syndrome 9, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disruption of DNA replication machinery, leading to the characteristic growth retardation and developmental abnormalities seen in Meier-Gorlin syndrome.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein subunit of the GINS heterotetrameric complex, which is essential for the initiation of DNA replication and replisome progression in eukaryotes. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…