MND1

Chr 4

meiotic nuclear divisions 1

Also known as: GAJ

NCBI Gene: 84057 ENSG00000121211 UniProt: Q9BWT6

The MND1 protein forms a heterodimeric complex with HOP2 that stimulates RAD51 and DMC1 recombinase activity, enabling proper homologous chromosome pairing and efficient cross-over during meiosis. Mutations cause primary ovarian insufficiency and male infertility with azoospermia, following an autosomal recessive inheritance pattern. The gene shows low constraint against loss-of-function variants, consistent with a recessive disorder affecting reproductive function.

ResearchSummary from RefSeq, UniProt

The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.40

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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