MAEL Chromosome 1

Maelstrom spermatogenic transposon silencer

2 variants 2 Health Risk

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What This Gene Does

Predicted to enable sequence-specific DNA binding activity. Predicted to be involved in male meiotic nuclear division; negative regulation of macromolecule biosynthetic process; and spermatogenesis. Predicted to act upstream of or within several processes, including homologous chromosome pairing at meiosis; intrinsic apoptotic signaling pathway in response to DNA damage; and negative regulation of macromolecule biosynthetic process. Predicted to be located in piP-body. Predicted to be active in P granule and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (1)

Male infertility

Key Variants

RS757249676

Likely pathogenic

Male infertility, Male infertility

Health Risk

RS898422350

Likely pathogenic

Male infertility, Male infertility

Health Risk

All Variants (2)

RSID	Category	Clinical Significance	Conditions
RS757249676	Health Risk	Likely pathogenic	Male infertility, Male infertility
RS898422350	Health Risk	Likely pathogenic	Male infertility, Male infertility