GMNN Chromosome 6
Geminin DNA replication inhibitor
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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
RS150391376
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199710640
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201007411
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771371885
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS774279982
Conflicting classifications of pathogenicity
Inborn genetic diseases, Meier-Gorlin syndrome 6, Inborn genetic diseases
Health Risk
RS864309488
Likely pathogenic
Meier-Gorlin syndrome, Meier-Gorlin syndrome 6, Meier-Gorlin syndrome
Health Risk
RS864309486
Pathogenic
Meier-Gorlin syndrome, Meier-Gorlin syndrome 6, Meier-Gorlin syndrome
Health Risk
RS864309487
Pathogenic
Meier-Gorlin syndrome, Meier-Gorlin syndrome 6, Meier-Gorlin syndrome
Health Risk
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 |