GMNN Chromosome 6

Geminin DNA replication inhibitor
8 variants 8 Health Risk

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What This Gene Does
This gene encodes a protein that plays a critical role in cell cycle regulation. The encoded protein inhibits DNA replication by binding to DNA replication factor Cdt1, preventing the incorporation of minichromosome maintenance proteins into the pre-replication complex. The encoded protein is expressed during the S and G2 phases of the cell cycle and is degraded by the anaphase-promoting complex during the metaphase-anaphase transition. Increased expression of this gene may play a role in several malignancies including colon, rectal and breast cancer. Alternatively spliced transcript variants have been observed for this gene, and two pseudogenes of this gene are located on the short arm of chromosome 16. [provided by RefSeq, Oct 2011]
Associated Conditions (3)
Inborn genetic diseases
Meier-Gorlin syndrome 6
Meier-Gorlin syndrome
Key Variants
All Variants (8)
RSID Category Clinical Significance Conditions
RS150391376 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199710640 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201007411 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771371885 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774279982 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Meier-Gorlin syndrome 6, Inborn genetic diseases
RS864309488 Health Risk Likely pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome 6, Meier-Gorlin syndrome
RS864309486 Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome 6, Meier-Gorlin syndrome
RS864309487 Health Risk Pathogenic Meier-Gorlin syndrome, Meier-Gorlin syndrome 6, Meier-Gorlin syndrome
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