CDC45 Chromosome 22
Cell division cycle 45
Upload your DNA to see your personal genotypes for variants in CDC45.
What This Gene Does
The protein encoded by this gene was identified by its strong similarity with Saccharomyces cerevisiae Cdc45, an essential protein required to the initiation of DNA replication. Cdc45 is a member of the highly conserved multiprotein complex including Cdc6/Cdc18, the minichromosome maintenance proteins (MCMs) and DNA polymerase, which is important for early steps of DNA replication in eukaryotes. This protein has been shown to interact with MCM7 and DNA polymerase alpha. Studies of the similar gene in Xenopus suggested that this protein play a pivotal role in the loading of DNA polymerase alpha onto chromatin. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
CMG helicase complex
Locus Type
gene with protein product
Location
22q11.21
Ensembl
ENSG00000093009
Associated Conditions (4)
Inborn genetic diseases
Androgen resistance syndrome
CDC45-related disorder
Meier-Gorlin syndrome 7
Key Variants
RS139956849
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147730653
Conflicting classifications of pathogenicity
Health Risk
RS148062883
Conflicting classifications of pathogenicity
Androgen resistance syndrome, CDC45-related disorder, Androgen resistance syndrome
Health Risk
RS184924520
Conflicting classifications of pathogenicity
Health Risk
RS190155337
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 7, Inborn genetic diseases, Meier-Gorlin syndrome 7
Health Risk
RS201892503
Conflicting classifications of pathogenicity
CDC45-related disorder, CDC45-related disorder
Health Risk
RS540217942
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
Health Risk
RS540900837
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
Health Risk
RS545468684
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS769332983
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778459455
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS778665661
Conflicting classifications of pathogenicity
Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139956849 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147730653 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148062883 | Health Risk | Conflicting classifications of pathogenicity | Androgen resistance syndrome, CDC45-related disorder, Androgen resistance syndrome |
| RS184924520 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190155337 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 7, Inborn genetic diseases, Meier-Gorlin syndrome 7 |
| RS201892503 | Health Risk | Conflicting classifications of pathogenicity | CDC45-related disorder, CDC45-related disorder |
| RS540217942 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS540900837 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS545468684 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS769332983 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778459455 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778665661 | Health Risk | Conflicting classifications of pathogenicity | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS1321222066 | Health Risk | Likely pathogenic | — |
| RS146559223 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS2517548883 | Health Risk | Likely pathogenic | — |
| RS2517554532 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS372173077 | Health Risk | Likely pathogenic | — |
| RS754080445 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS879255632 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS879255633 | Health Risk | Likely pathogenic | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS1444869565 | Health Risk | Pathogenic | — |
| RS1933800287 | Health Risk | Pathogenic | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS2146413876 | Health Risk | Pathogenic | — |
| RS2517553761 | Health Risk | Pathogenic | — |
| RS2517554170 | Health Risk | Pathogenic | — |
| RS2517653620 | Health Risk | Pathogenic | — |
| RS2517658835 | Health Risk | Pathogenic | — |
| RS2517676690 | Health Risk | Pathogenic | — |
| RS752023208 | Health Risk | Pathogenic | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |
| RS763515165 | Health Risk | Pathogenic | — |
| RS751663397 | Health Risk | Pathogenic/Likely pathogenic | Meier-Gorlin syndrome 7, Meier-Gorlin syndrome 7 |