MCMDC2 Chromosome 8
Minichromosome maintenance domain containing 2
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What This Gene Does
Predicted to enable ATP binding activity and DNA binding activity. Predicted to be involved in double-strand break repair via break-induced replication. Predicted to act upstream of or within meiosis I cell cycle process; oogenesis; and spermatogenesis. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
MCM family
Locus Type
gene with protein product
Location
8q13.1
Ensembl
ENSG00000178460
Associated Conditions (2)
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Azoospermia
Key Variants
RS143895635
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS751075073
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS370115455
Pathogenic
Azoospermia, Azoospermia
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143895635 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS751075073 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS370115455 | Health Risk | Pathogenic | Azoospermia, Azoospermia |