MCM4 Chromosome 8
Minichromosome maintenance complex component 4
Upload your DNA to see your personal genotypes for variants in MCM4.
What This Gene Does
The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. The MCM complex consisting of this protein and MCM2, 6 and 7 proteins possesses DNA helicase activity, and may act as a DNA unwinding enzyme. The phosphorylation of this protein by CDC2 kinase reduces the DNA helicase activity and chromatin binding of the MCM complex. This gene is mapped to a region on the chromosome 8 head-to-head next to the PRKDC/DNA-PK, a DNA-activated protein kinase involved in the repair of DNA double-strand breaks. Alternatively spliced transcript variants encoding the same protein have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MCM family|minichromosome maintenance 2-7 complex"
Locus Type
gene with protein product
Location
8q11.21
Ensembl
ENSG00000104738
Associated Conditions (2)
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
MCM4-related disorder
Key Variants
RS117063344
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS142732823
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS143217620
Conflicting classifications of pathogenicity
Health Risk
RS148525401
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS148576543
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS148927296
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS151044076
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS199890906
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS200598421
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS34157149
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS34206069
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
RS372261482
Conflicting classifications of pathogenicity
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117063344 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS142732823 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS143217620 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148525401 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS148576543 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS148927296 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS151044076 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS199890906 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS200598421 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS34157149 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, MCM4-related disorder, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS34206069 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS372261482 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS537116891 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755216810 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS764079802 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775056163 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS886062977 | Health Risk | Conflicting classifications of pathogenicity | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS890413153 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1235010442 | Health Risk | Likely pathogenic | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |
| RS1563829725 | Health Risk | Pathogenic | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency |